Pseudohermaphroditism is an old medical word for a group of conditions where a person’s chromosomes and internal sex organs are clearly male or clearly female, but the outside genitals look different from the usual pattern for that sex or are hard to classify as male or female. Today, doctors prefer the term “disorders (or differences) of sex development,” often shortened to DSD, because it is more respectful and less confusing. In these conditions, the baby’s gonads (ovaries or testes) and chromosomes are usually typical for one sex, but hormone production or hormone response is changed, so the outside genitals develop in an atypical way.
The old word “pseudohermaphroditism” is now almost never used by doctors, because people and families feel it is hurtful and confusing. Today, specialists usually say “disorders of sex development (DSD)” or “differences of sex development.” These conditions happen when the usual match between chromosomes (XX or XY), gonads (ovaries or testes), hormones, and external genitals does not fully line up, so the baby may be born with genitals that look “in-between” male and female or different from what doctors expect. [1]
In simple words, DSD means the body’s sex development, before birth and during puberty, followed a different pathway because of genes, hormones, or other factors. Many people with DSD are healthy and can live full, happy lives with good medical and emotional support. Treatment does not “fix” the person; instead, it helps with hormone balance, body health, and emotional well-being, and supports the person’s own identity and choices. [2]
Pseudohermaphroditism can appear at birth, when a baby is found to have ambiguous genitals, or later in life, when puberty changes do not match the expected sex, or when fertility problems are discovered. Modern guidelines now classify these conditions mainly by chromosome pattern: 46,XX DSD, 46,XY DSD, and sex chromosome DSD, instead of using the words “male pseudohermaphroditism” and “female pseudohermaphroditism.”
Other Names
Doctors now try not to use the word pseudohermaphroditism, because many people find it old-fashioned and hurtful. Instead, several other names are used to describe the same or closely related conditions:
Disorders (or differences) of sex development (DSD) – the main modern umbrella term for conditions with atypical development of chromosomes, gonads, or genitals.
46,XX DSD – used when the person’s chromosomes are 46,XX (usually “female pattern”), but hormone exposure before birth causes the external genitals to look more male or ambiguous (this roughly matches old “female pseudohermaphroditism”).
46,XY DSD – used when the chromosomes are 46,XY (usually “male pattern”), but the body does not produce or respond to male hormones in the usual way, so the genitals can look female, male, or in-between (this roughly matches old “male pseudohermaphroditism”).
Ambiguous genitalia – a descriptive term used mainly in newborns when the doctor cannot easily say the genitals are clearly male or female by looking. This is often the first visible sign of a DSD.
Types
In older textbooks, pseudohermaphroditism was divided into two main types, depending on which internal organs and chromosomes the person had.
Male pseudohermaphroditism (now mostly called 46,XY DSD)
In this type, the person has male chromosomes (usually 46,XY) and testes, but the outside genitals do not look typically male. They might look more female, or clearly in-between, because the body does not make enough male hormones or does not respond properly to them.Female pseudohermaphroditism (now mostly called 46,XX DSD)
Here, the person has female chromosomes (46,XX) and ovaries, but the outside genitals look more male or ambiguous. This usually happens when a baby with ovaries is exposed to too much male-type hormone (androgen) before birth, often from the adrenal glands.Sex chromosome DSD with features once grouped as pseudohermaphroditism
Some conditions involve extra or missing sex chromosomes, such as mosaic patterns (for example, 45,X/46,XY) that can also lead to ambiguous genitals. In older language, some of these might have been described under pseudohermaphroditism, but now they are clearly grouped as sex chromosome DSD.
Causes
Many different medical problems can disturb how sex organs and genitals form before birth. Below are 20 important causes linked to conditions once called pseudohermaphroditism (now mostly described as DSD).
21-hydroxylase–deficient congenital adrenal hyperplasia (CAH)
This is the most common cause of 46,XX DSD. In this condition, the adrenal glands cannot make cortisol normally, so they produce too much androgen (male-type hormone). In a baby with ovaries, these extra androgens can enlarge the clitoris and cause the genitals to look more male.11β-hydroxylase–deficient CAH
This is another enzyme problem of the adrenal glands. It also leads to extra androgen production and can cause virilization (more male-looking genitals) in a baby with 46,XX chromosomes, while also causing high blood pressure from other hormone changes.3β-hydroxysteroid dehydrogenase deficiency
This rare enzyme defect changes how several adrenal and gonadal hormones are made. Hormone levels can be mixed, so both 46,XX and 46,XY babies may show ambiguous genitals, because normal male or female hormone balance is not reached.17α-hydroxylase/17,20-lyase deficiency
In this condition, sex hormone production is low, especially male hormones like testosterone. A person with 46,XY chromosomes may have under-developed male genitals or more female-appearing genitals because of the lack of androgens in fetal life.Classic CAH with salt-wasting crisis
In severe forms of classic CAH, the baby not only has genital changes but also dangerous loss of salt and water. This can cause dehydration and shock in the newborn, so it is a life-threatening cause of ambiguous genitalia that must be found quickly.Androgen insensitivity syndrome (AIS), complete form
In complete AIS, the person’s cells cannot respond to male hormones at all. A 46,XY person with testes may develop typical female-appearing external genitals, even though the internal gonads are testes. This was once called a form of male pseudohermaphroditism.Partial androgen insensitivity syndrome (PAIS)
In partial AIS, the body responds only partly to androgens. The outside genitals can look in-between male and female, or closer to one side. The degree of genital ambiguity often reflects how much androgen action is preserved.Mild androgen insensitivity or androgen receptor variants
In mild forms, androgen response is only slightly reduced. The genitals may appear mostly male but with subtle differences, such as hypospadias or small penis, and fertility problems may appear later. These were also grouped within male pseudohermaphroditism in older classifications.5-alpha-reductase type 2 deficiency
This enzyme converts testosterone into its more active form, dihydrotestosterone (DHT), which is very important for forming male external genitals in the fetus. When the enzyme is missing, a 46,XY baby may be born with female or ambiguous-appearing genitals despite having testes.Gonadal dysgenesis in 46,XY individuals
When testes do not form normally (dysgenesis), they may not produce enough hormones to masculinize the external genitals. This poor testis development can lead to ambiguous genitalia and was often classified under male pseudohermaphroditism.Mixed gonadal dysgenesis or mosaic sex chromosome patterns
Some people have a mix of different sex chromosome lines (for example 45,X/46,XY). The abnormal gonadal development and hormone production can lead to varying degrees of genital ambiguity that once fell under pseudohermaphroditism.Leydig cell hypoplasia or luteinizing hormone receptor defects
Leydig cells in the testes normally make testosterone when stimulated by luteinizing hormone (LH). If these cells are under-developed or the LH receptor does not work, testosterone production is low, so 46,XY individuals can have under-masculinized genitals.Placental aromatase deficiency
Aromatase is an enzyme that converts androgens to estrogens, especially in the placenta. When it is missing, androgens can build up in both the mother and the fetus. A 46,XX fetus may become virilized, with more male-appearing genitals at birth.Maternal androgen-secreting tumors
If the pregnant mother has a tumor that makes androgens (for example, in the ovary or adrenal gland), these hormones can cross the placenta and affect the fetus. A female fetus can be exposed to excess androgens, causing virilization of the external genitals.Maternal use of androgenic or progestin drugs in pregnancy
Some medicines taken in early pregnancy have androgen-like effects. High doses of these drugs, especially in the first trimester, can cause virilization of a 46,XX fetus and lead to ambiguous genitals at birth.Adrenal or gonadal tumors in the fetus
Rarely, the fetus itself can have an adrenal or gonadal tumor that produces androgens or estrogens in abnormal amounts, disturbing normal genital development and leading to pseudohermaphroditism-type features.Sex chromosome DSD such as 46,XX/46,XY chimerism
When a person has cells with both 46,XX and 46,XY lines, the gonads and hormone output can be very mixed. This can cause external genitals that are difficult to classify, which older sources might have described with pseudohermaphroditism terminology.Severe prematurity with hormone imbalance affecting genital appearance
In very premature infants, genital tissues may appear small or less clearly formed, and temporary hormone imbalances can make classification difficult. While not a classic DSD, these features can mimic pseudohermaphroditism until the baby grows and more tests are done.Environmental endocrine-disrupting exposures
Exposure to chemicals that act like hormones or block hormone action during pregnancy has been suggested as a possible contributor to atypical genital development, although data are still developing. These exposures might add to genetic and hormonal causes in some cases.Unknown or multifactorial genetic causes
Even with modern hormone assays and gene tests, some people with features of pseudohermaphroditism still have no clear single cause identified. In these cases, doctors may suspect complex interactions between multiple genes and environmental influences.
Symptoms and Signs
The word “symptoms” here includes both what the person feels and what doctors can see or measure (signs). Different causes give different patterns, but some common features include:
Ambiguous genitals at birth
The most common early sign is that the baby’s genitals do not look clearly male or female. For example, the clitoris may be very large, the penis may be very small, or the folds around the opening may look partly like a scrotum and partly like labia.Mismatch between internal organs and external genitals
A child may have testes or ovaries typical of one sex, but the outside genitals look closer to the other sex or are in-between. This mismatch is a key part of the older pseudohermaphroditism definition.Hypospadias or atypical urinary opening
In some 46,XY DSD conditions, the opening of the urethra is not at the tip of the penis but on the underside or in the perineal area. This can be associated with other features of under-masculinization.Non-palpable or undescended testes
When testes are not felt in the scrotum or labial area, or are only found in the groin or abdomen, this can signal a DSD, especially if the external genitals are also atypical.Virilization of a person with 46,XX chromosomes
A child who was expected to be female may show a large clitoris, fusion of the labial folds, or other virilizing changes due to high androgen levels from CAH or other causes.Under-masculinization of a person with 46,XY chromosomes
A person with testes and XY chromosomes but very small penis, partly female-appearing genitals, or fully female-appearing genitals may have AIS or other 46,XY DSD.Delayed or absent puberty
In some DSD, puberty does not start at the usual age, or progresses only partly. For example, a person with 46,XY and AIS may develop breasts but have little or no pubic hair and no menstruation.Unexpected puberty changes (for example, virilization in a person raised as a girl)
In 5-alpha-reductase deficiency or some forms of CAH, a person raised as a girl may suddenly develop a deeper voice, more muscle, and growth of a penis at puberty because of rising testosterone levels.Infertility or difficulty having children
Many DSD conditions affect the structure or function of the gonads, leading to reduced or absent fertility. Sometimes the person only finds out about their condition when they seek help for infertility.Absent or irregular menstruation in someone raised female
If a person raised as female never starts periods, or has very irregular cycles, doctors may suspect an underlying DSD, especially if there are other body signs such as lack of uterus or unusual hormone levels.Salt-wasting crisis in newborns with CAH
Some babies with CAH develop vomiting, poor feeding, dehydration, and low blood pressure in the first weeks of life. These crises are medical emergencies and often occur together with ambiguous genitals in 46,XX infants.Low blood pressure and shock related to adrenal failure
When salt-wasting CAH is not treated, severe loss of salt and water can cause shock, which may be the first sign that leads doctors to examine the genitals more carefully and consider a DSD diagnosis.Psychological distress or confusion about body and identity
People with DSD may feel stressed, confused, or anxious about their bodies, especially if they learned about the diagnosis late or had many surgeries. Modern care tries to offer sensitive psychological support and to involve the person in decisions as much as possible.Pain or discomfort in the groin or abdomen
Some DSD conditions involve abnormal position or development of gonads or internal ducts, which can cause pain, hernias, or masses that become noticeable in childhood or adulthood.Increased risk of certain gonadal tumors in some DSD
In a few types, especially where testes are undescended or dysgenetic, there is a higher risk of gonadal tumors. Regular check-ups and imaging are sometimes advised to monitor and manage this risk.
Diagnostic Tests
Doctors use a step-by-step approach to understand the exact cause of pseudohermaphroditism-type conditions. The main goals are to identify any life-threatening problems (like salt-wasting), to find the underlying diagnosis, and to support the person and family in making informed decisions.
Physical Examination Tests
Full newborn and child physical examination
The doctor looks carefully at the baby or child’s whole body, including growth, body proportions, and any unusual physical features. They pay special attention to the genital area, but also to skin, blood pressure, and hydration, because some causes, such as CAH, can quickly become dangerous.Detailed external genital inspection (often with a staging scale)
The appearance of the genitals is described in detail: size of clitoris or penis, position of urethral opening, degree of fusion of the folds, and any other variations. A staging system such as the Prader scale may be used to grade virilization in 46,XX DSD.Palpation for gonads in the groin and labial or scrotal area
The doctor feels carefully for testes or other gonads in the scrotum, labia, or groin. Whether gonads are present, absent, or in an unusual place gives important clues about the karyotype and the type of DSD.Measurement of vital signs, including blood pressure
Blood pressure, heart rate, temperature, and signs of dehydration are checked, because some DSD causes (for example salt-wasting CAH) can lead to low blood pressure and shock in newborns.
Manual / Bedside Clinical Tests
Stretched penile length or clitoral size measurement
The doctor gently stretches the penis or measures the clitoris using a ruler. Comparing these numbers to age-based charts helps decide whether the organ is unusually small or enlarged, which supports the diagnosis of under- or over-virilization.Tanner staging of puberty
In older children and teenagers, breast development, pubic hair, and genital growth are graded using Tanner stages. A pattern that does not match the expected sex or age can point to a DSD such as AIS or CAH.Manual abdominal and pelvic examination
Gently feeling the abdomen and pelvis helps detect any masses, enlarged organs, or possible uterus or gonads near the midline. This information is combined with imaging to understand internal anatomy.Family and developmental history assessment (structured clinical interview)
Although not a “test” in the laboratory sense, a careful, face-to-face history is essential. The doctor asks about consanguinity, similar conditions in relatives, fertility problems in the family, and the timing of puberty changes, which helps narrow down genetic and hormonal causes.
Laboratory and Pathological Tests
Serum electrolytes and glucose
Blood tests for sodium, potassium, and glucose are done early in babies with ambiguous genitals to look for salt-wasting CAH and low blood sugar. Abnormal results can mean an urgent need for hormone replacement and fluid therapy.Serum 17-hydroxyprogesterone (17-OHP)
This hormone is usually very high in classic 21-hydroxylase-deficient CAH. Measuring 17-OHP is a key screening and diagnostic test for babies with ambiguous genitalia and suspected CAH.Serum cortisol and ACTH levels
Cortisol may be low and ACTH high in primary adrenal defects like CAH. These values help confirm adrenal failure and guide emergency treatment in newborns with genital ambiguity.Androgen profile (testosterone, DHT, androstenedione, DHEA-S)
Measuring several androgens helps distinguish between androgen excess (as in CAH) and androgen deficiency or conversion problems (as in 5-alpha-reductase deficiency or Leydig cell disorders). Ratios of testosterone to DHT can be particularly useful.Gonadotropins (LH and FSH)
Blood levels of LH and FSH show how the pituitary is responding. Very high or very low levels, combined with sex hormone levels, help classify whether the issue is mainly in the gonads or upstream in hormone control centers.Karyotype analysis (chromosome testing)
A karyotype test looks at the chromosomes to see if the person is 46,XX, 46,XY, or has a sex chromosome variation (like mosaic patterns). This is central to the modern DSD classification and has replaced the old pseudohermaphroditism labels.Targeted molecular genetic testing of candidate genes
After karyotype and hormone tests, specific genes such as CYP21A2 (for CAH), AR (for AIS), or others can be sequenced to confirm the exact diagnosis. Next-generation sequencing panels are increasingly used to evaluate many DSD-related genes at once.Gonadal biopsy and histology (when needed)
In some cases, a small piece of gonadal tissue is taken and examined under the microscope. This helps determine whether the tissue is ovary, testis, mixed (ovotestis), or dysgenetic, and can also check for early signs of tumors.
Electrodiagnostic Tests
(These tests are not specific for pseudohermaphroditism or DSD, but may be used to monitor complications, especially in severe adrenal disease.)
Electrocardiogram (ECG)
In babies with severe salt-wasting CAH, dangerous changes in blood potassium and other electrolytes can affect the heart rhythm. An ECG records the heart’s electrical activity and helps detect rhythm problems that might need urgent correction.Electroencephalogram (EEG) in severe metabolic crises
If a baby or child with CAH or another hormonal crisis has seizures or altered consciousness, an EEG can assess brain electrical activity. While not a direct test for DSD, it helps monitor brain function during severe endocrine and electrolyte disturbances linked to these conditions.
Imaging Tests
Pelvic and abdominal ultrasound
Ultrasound is usually the first imaging test. It can show whether a uterus is present, where the gonads are located, and whether there are other abdominal abnormalities. It is painless and very useful in the early evaluation of ambiguous genitalia and DSD.Magnetic resonance imaging (MRI) of pelvis and abdomen
MRI gives more detailed pictures of soft tissues and can clarify findings from ultrasound. It helps map complex anatomy, identify internal ducts and gonads, and plan any possible surgery, while avoiding radiation exposure. MRI is often used in specialized centers for comprehensive DSD assessment.
Non-pharmacological treatments
1. Multidisciplinary team care
A DSD clinic usually includes hormone specialists, surgeons, psychologists, nurses, social workers, and genetic counselors. They work together so that medical tests, treatments, and decisions are safe and coordinated. This team approach reduces mistakes and helps the patient and family feel more supported and less alone.
2. Detailed health education and counseling
Simple, honest education about the person’s body, hormones, and possible future changes helps reduce fear. Doctors explain what is known, what is unknown, and what choices are possible. Good information, in clear language, helps the patient and parents make decisions based on facts, not myths or shame.
3. Psychological support and psychotherapy
Regular visits with a psychologist or therapist let the person and family talk openly about worry, anger, confusion, or sadness. Therapy can teach coping skills, improve self-esteem, and reduce anxiety and depression, which are more common in people with DSD if support is weak.
4. Family counseling
Parents may feel guilty or shocked after a DSD diagnosis. Family counseling helps them understand that they did not “cause” the condition and teaches them how to talk with their child in a loving and respectful way. This support protects the child from feeling rejected or “wrong”.
5. Peer support groups
Meeting other people and families with DSD can be very powerful. Support groups (in person or online) allow sharing real-life experiences, tips, and hope. Listening to older teens or adults with DSD can help younger people imagine a good future life.
6. Gender identity exploration support
Some people with DSD feel comfortable with the sex assigned at birth; others may not. Care teams should give safe space and time to explore gender identity, without pressure, using counseling and, when needed, gender specialists who follow formal guidelines.
7. School and social support planning
A social worker or psychologist can help plan how to handle school toilets, sports, medical appointments, and how much to tell teachers or friends. The goal is to protect privacy while avoiding bullying and social isolation.
8. Sex education and relationship counseling
Age-appropriate education about puberty, consent, fertility options, and sexual function is important. It should be gentle, non-shaming, and matched to the person’s body and future plans, helping them build safe and respectful relationships later in life.
9. Pelvic floor and urogenital physiotherapy
Some people have pain, difficulty passing urine, or tight pelvic muscles, especially after surgery. Special physiotherapy can improve muscle coordination, reduce pain, and help with bladder or sexual function in adulthood.
10. Body image and self-esteem programs
Workshops or therapy that focus on body image can help people accept scars, small gonads, or “different” genital appearance. Learning to see the body as strong and worthy lowers depression and improves quality of life.
11. Lifestyle coaching (sleep, exercise, stress)
Good sleep, regular movement, and stress-reduction practices (breathing exercises, yoga, mindfulness) support hormone health, mood, and heart health. They do not change chromosomes but improve overall health and resilience.
12. Fertility counseling and planning
Specialists explain if natural fertility is possible, if sperm or egg preservation is an option, or if future assisted reproductive techniques may help. Early planning can prevent regret and gives realistic expectations.
13. Genetic counseling
Genetic counselors explain which gene changes are present, how they affect the body, and the chance that future children might have similar conditions. This helps in family planning and reduces fear based on incomplete information.
14. Ethical and legal counseling
Some decisions (like early surgery) have ethical questions. Ethics specialists and legal advisors can help families know the laws and human-rights principles in their country to protect the child’s future choices and autonomy.
15. Nutritional counseling
Dietitians support healthy weight, bone health, and blood pressure, especially when long-term steroids or sex hormones are used. They plan calcium, vitamin D, and salt intake (for example in some forms of congenital adrenal hyperplasia) to keep the body strong.
16. Transition planning from child to adult care
A planned transfer from pediatric to adult clinics helps the young person slowly take charge of their own health, prescriptions, and decisions. Clear written plans reduce the risk of dropping out of care.
17. Digital tools (apps, diaries)
Symptom and medication-tracking apps or simple diaries help keep hormone use safe, record side effects, and remind about blood tests. This supports better long-term control and fewer complications.
18. Community and school education
Carefully designed education for teachers and health staff (without breaking the patient’s privacy) can reduce stigma and bullying. When people understand that DSD is a natural biological variation, discrimination often decreases.
19. Spiritual or religious support (when desired)
Some families want to talk with spiritual leaders. If these leaders are educated about DSD, they may provide comfort instead of shame, helping families accept the child as they are.
20. Regular long-term follow-up
Non-drug care is not a one-time event. Lifelong follow-up checks growth, puberty, bone health, mental health, and cancer risks, and adjusts the plan with age. This ongoing support is a key “therapy” by itself.
Drug treatments
Important: The exact medicines depend on the specific DSD (for example, congenital adrenal hyperplasia, gonadal dysgenesis, androgen insensitivity). Doses and timing must be decided only by a specialist doctor. The notes below are general educational information, not a prescription.
1. Hydrocortisone (glucocorticoid)
Hydrocortisone is a steroid that replaces cortisol in many forms of congenital adrenal hyperplasia (CAH). It lowers excess adrenal androgens and helps keep blood sugar and blood pressure stable. It is usually given 2–3 times daily, with total dose based on body surface area and age; too much can slow growth and weaken bones, so levels must be checked often.
2. Prednisone or prednisolone
These longer-acting glucocorticoids may be used in older patients when hydrocortisone alone does not control adrenal androgens. They are usually taken once daily in low doses. Because they are strong, long-term use can cause weight gain, high blood pressure, diabetes, and thin bones, so doctors try to use the lowest effective dose.
3. Dexamethasone
Dexamethasone is a very powerful glucocorticoid sometimes used at night in adults with CAH to strongly suppress adrenal androgen production. Doses are tiny but effects are big, so side effects like Cushing-like changes, mood problems, and bone loss must be watched closely. It is never self-started without specialist care.
4. Fludrocortisone (mineralocorticoid)
Fludrocortisone replaces aldosterone in “salt-wasting” forms of CAH. It helps the body keep salt and water, preventing dehydration and low blood pressure. A small tablet once daily is common, with extra salt in the diet in infancy. Doctors monitor blood pressure and electrolytes to adjust the dose safely.
5. Oral sodium chloride (salt supplements)
In some babies with CAH, extra salt solution is added to feeds to prevent dangerous salt loss. The dose depends on weight and blood sodium levels. This is usually temporary and always supervised by a pediatric endocrinologist to avoid over- or under-correction.
6. Testosterone cypionate injection
In people assigned male who have low testosterone because of gonadal problems, testosterone cypionate injections can induce or maintain male puberty, muscle mass, and bone strength. FDA labels describe typical adult doses like 50–400 mg intramuscularly every 2–4 weeks, adjusted by blood levels and symptoms; side effects include acne, high hematocrit, blood-pressure changes, and mood shifts.
7. Other injectable testosterone esters
Different testosterone esters (for example, testosterone enanthate or undecanoate) provide longer or shorter action. They are given every few weeks or months to keep testosterone in the male range. Choice and interval depend on local approvals and individual response; safety monitoring is similar to testosterone cypionate.
8. Testosterone gel or cream
Skin (transdermal) testosterone is sometimes used for more stable daily levels or in adults. A measured amount of gel is applied to clean, dry skin once daily. Dosing is titrated to blood levels, and care is taken to avoid skin-to-skin transfer to children or pregnant partners.
9. Oral testosterone undecanoate
In some countries, oral testosterone undecanoate is used for hypogonadism. It is taken with meals, and doses are adjusted based on testosterone levels and symptoms. It may be used when injections or gels are not acceptable, but liver and blood-pressure effects must be checked.
10. Estradiol oral tablets
For people assigned female with low estrogen (for example, gonadal dysgenesis), low-dose estradiol tablets can start breast development and female puberty, then doses are slowly increased. Estrogen supports bone health and uterine growth. Doctors monitor blood pressure, clot risk, and migraine history before and during treatment.
11. Estradiol transdermal patches
Estradiol patches (such as several estradiol transdermal systems on the FDA database) deliver estrogen through the skin. Patches are stuck on the skin and changed once or twice per week. They give smooth hormone levels and may be gentler on the liver; labels warn about clot risk, breast tenderness, and need for regular check-ups.
12. Progesterone (micronized or synthetic)
When a person with a uterus has had estrogen replacement for some time, progesterone is added for part of each month to protect the uterine lining and, if desired, create regular “withdrawal bleeds”. Dose and schedule vary; common side effects are mood changes, breast tenderness, and sleepiness.
13. Combined estrogen–progestin contraceptive pills
Combined pills may be used to regulate bleeding or provide contraception in some DSD situations. They contain low doses of synthetic estrogen and progestin taken daily. They can help acne and cycle control, but increase risk of blood clots in some people, so careful screening is needed.
14. GnRH agonists (for example, leuprolide)
GnRH agonists temporarily “switch off” the pituitary signals that stimulate gonads. They can pause puberty when timing is unclear, or help prepare for later gender-affirming treatment in selected cases under strict protocols. Doses are given as regular injections; bone density and mood must be watched.
15. Anti-androgens (for example, spironolactone)
Spironolactone blocks some effects of androgens and reduces testosterone levels. It may be used to treat androgen-related symptoms (like excess hair) in selected people. It is usually taken daily, and doctors monitor potassium, kidney function, blood pressure, and menstrual changes.
16. Other anti-androgens (for example, bicalutamide; used cautiously)
Some stronger anti-androgen medicines are used in very selected cases, mostly adults, and need careful liver and safety monitoring. They are not routine for children and should only be used following specialist guidelines because of serious side-effect risks.
17. Aromatase inhibitors (for example, anastrozole)
These drugs lower estrogen production and are sometimes used in growth and puberty disorders (not specifically DSD) to modify growth plate closure. In DSD, they are rarely used and only under specialist control, with bone density and lipid checks.
18. hCG (human chorionic gonadotropin)
hCG injections can stimulate testosterone production in some people with testes that can respond but are under-active. It may be used as part of fertility-oriented regimens or to test testicular function. Doses are individualized, and side effects include testicular discomfort and mood changes.
19. FSH/LH (gonadotropin) preparations
In selected patients with pituitary problems, FSH/LH injections can stimulate gonads for puberty or fertility treatment. They are complex and expensive and are only used in specialist centers with close hormonal and ultrasound monitoring.
20. Bone-protective drugs (for example, vitamin D and, rarely, bisphosphonates)
When long-term steroids or sex-hormone problems weaken bones, vitamin D and calcium are basic; in severe cases in adults, other bone drugs may be considered. They do not treat DSD directly but protect long-term health.
Dietary molecular supplements
1. Vitamin D
Vitamin D helps the body absorb calcium and build strong bones, which is vital when people use steroids or have low sex hormones. A typical supplement dose might be 600–1000 IU daily in many guidelines, but higher doses are sometimes used and must be guided by blood tests to avoid toxicity.
2. Calcium
Calcium, from diet or tablets, supports bone health, especially when glucocorticoids or low estrogen/testosterone weaken bones. Usual total intake targets around 1000–1300 mg per day from food and supplements combined, depending on age. Too much calcium can cause kidney stones, so balance is important.
3. Omega-3 fatty acids
Omega-3 fats (from fish oil or algae oil) may support heart health and reduce inflammation. They are not specific for DSD but can be part of a healthy lifestyle, especially if steroid use raises cardiovascular risk. Typical supplement doses range from 250–1000 mg EPA+DHA daily, adjusted by a clinician.
4. Iron
If there is anemia from heavy bleeding or chronic illness, iron supplements can correct low hemoglobin and improve energy. Doses depend on body weight and type (oral or IV). Iron is only used when tests confirm deficiency, because too much can damage organs.
5. Vitamin B12
Vitamin B12 helps nerves and blood cells work well. People with restricted diets or gut problems may have low B12. Daily oral or occasional injection doses are chosen by the doctor based on blood levels. Good B12 levels support overall brain and body function.
6. Folate (vitamin B9)
Folate supports healthy red blood cell production and is especially important for people who may become pregnant in the future, as it lowers the risk of some birth defects. Typical supplements are 400–800 micrograms daily, adjusted individually.
7. Zinc
Zinc is important for immune function, wound healing, and hormone actions. Mild supplementation under guidance may help people with proven low zinc levels or poor nutrition. High doses can cause nausea and interfere with copper, so medical advice is needed.
8. Selenium
Selenium supports antioxidant systems and thyroid function. In people with low intake, small daily supplements may be used, but the safe range is narrow, and long-term high doses can be toxic. It is not specific for DSD but supports general health.
9. Probiotics
Probiotic bacteria (in capsules or fermented foods) may support gut health, especially if steroids or other drugs disturb the microbiome. They do not change sex development but might reduce digestive side effects and improve overall well-being. Product choice and dose vary widely.
10. Multivitamin tailored to age
A basic multivitamin with minerals may be useful in people with poor appetite or restricted diets. It should not replace a healthy diet. Formulas matched to age and sex are preferred, and mega-doses should be avoided without clear medical need.
Drugs for immunity, regenerative and stem-cell–related approaches
Very important: There are no standard stem-cell or “immunity booster” drugs that cure DSD or pseudohermaphrodism. The options below are general or experimental ideas discussed in research. Any use must be inside proper clinical care or trials.
1. Vaccinations and routine immune care
The best “immunity boosters” are simple: full childhood and adult vaccination, flu shots, and up-to-date boosters. These protect people whose health may be fragile due to long-term steroids or other drugs. Doses follow national schedules, not special DSD rules.
2. Growth hormone (in selected cases)
In some rare situations with pituitary problems plus DSD features, growth hormone may be used to improve height and body composition. It is given as daily injections with doses based on weight. It does not change sex chromosomes but supports overall growth.
3. Hematopoietic stem-cell transplantation (HSCT) for specific syndromes
For very rare genetic conditions that combine immune failure and endocrine problems, HSCT may replace the immune system. This is not standard for DSD alone and carries serious risks (infection, graft-versus-host disease). It is done only in specialized centers and not as routine DSD treatment.
4. Experimental gene-therapy for CAH
Research is exploring gene therapy to correct enzyme defects in CAH, which might reduce the need for lifelong steroids and lower abnormal androgen levels. These treatments are still in trials, with unknown long-term safety, and are not routine clinical care yet.
5. Experimental gonadal or reproductive tissue engineering
Scientists are studying ways to grow or repair gonadal tissue using stem cells or tissue engineering. This research is very early and aims to understand fertility and hormone production better. It is not available as a standard treatment for people with DSD at this time.
6. Future targeted molecular therapies
Some studies look at drugs that directly modify hormone synthesis or action with fewer side effects than classic steroids. These include experimental adrenal-targeted medicines in CAH. They are still being evaluated and should only be used in formal clinical trials.
Surgeries
1. Orchiopexy (bringing testes into the scrotum)
When testes are undescended, surgeons may move them into the scrotum to reduce cancer risk and protect fertility. Timing is usually in early childhood for typical boys; in DSD it is decided case-by-case, after thinking about future gender identity and gonadal function.
2. Gonadectomy (removal of gonads)
Some DSD conditions carry a high risk of gonadal cancer. In those cases, removing the gonads may be recommended, usually after detailed counseling about the effects on hormones, fertility, and identity, and after planning hormone replacement.
3. Genital reconstruction (for example, hypospadias repair, clitoroplasty, vaginoplasty)
Surgeries to change the appearance or function of the external genitalia are now done more carefully and, when possible, delayed until the patient can participate in decisions. The goal is to improve comfort and function, not to force a “normal look” against the person’s wishes.
4. Urogenital sinus or vaginal surgery
Some people with DSD have a common opening for urine and menstrual flow. Surgery may create separate channels or enlarge the vaginal opening to prevent infections and allow normal flow. These operations require experienced surgeons and long-term follow-up.
5. Other reconstructive or corrective operations
Hernia repairs that include gonads, removal of streak gonads, or correction of internal reproductive organs may be needed in selected cases. As with other surgeries, modern practice emphasizes shared decision-making, clear explanation of risks, and respect for the person’s future choices.
Preventions
Many DSD conditions are genetic and cannot be fully prevented. These points mainly reduce complications and future health problems.
Genetic counseling before pregnancy – Families with a known DSD condition can meet a genetic counselor to understand recurrence risk and options like carrier testing.
Avoiding known teratogenic drugs in pregnancy – Pregnant people should avoid certain medicines and substances that disturb fetal sex development, following obstetric and endocrine advice.
Good control of maternal health conditions – Conditions such as maternal adrenal disease or diabetes should be well managed before and during pregnancy to reduce hormonal disturbances.
Newborn screening where available – Screening for CAH can detect dangerous salt-losing forms early and prevent life-threatening crises.
Regular follow-up in specialized clinics – Staying in care prevents missed hormone problems, tumors, or bone disease.
Healthy lifestyle (diet, exercise, no smoking) – This reduces steroid-related side effects like high blood pressure, obesity, and diabetes.
Calcium and vitamin D optimization – Prevents osteoporosis when steroid therapy or low sex hormones are present.
Vaccination and infection prevention – Important in people on steroids, who may fight infections less well.
Mental-health support early, not late – Early counseling can prevent serious depression, self-harm thoughts, or severe anxiety later.
Avoiding rushed irreversible decisions in childhood – Careful, slow decision-making and respect for future autonomy prevent regret from early surgeries or hormonal choices.
When to see doctors
You should see a doctor (usually a pediatrician, endocrinologist, or urologist/gynecologist) as soon as possible if a newborn has genital appearance that seems unclear or mixed, or if doctors mention a possible DSD. Early assessment can prevent dangerous salt loss, low blood sugar, or shock in conditions like CAH.
For children, teens, or adults already diagnosed, it is important to seek medical help quickly if there are new symptoms: severe vomiting, dehydration, extreme tiredness, fainting, very low blood pressure, sudden belly pain, or strong mood changes. These may signal adrenal crisis or hormone imbalance and need emergency care.
You should also book appointments if periods are absent or very irregular, if puberty seems very delayed or very early, or if there is pain with urination or sexual activity. Regular yearly follow-up is wise even when you feel well, to check hormones, bones, and mental health.
If you or your child feel confused or distressed about gender identity, body image, or social problems, seeing a mental-health professional with DSD or gender experience is as important as seeing the hormone doctor. Emotional health is part of medical care, not separate.
What to eat and what to avoid
Eat a balanced diet – Include fruits, vegetables, whole grains, and protein (beans, eggs, fish, lean meat) to support general health and hormone metabolism.
Ensure enough calcium and vitamin D – Dairy products or fortified plant milks, plus safe sunlight or supplements, help protect bones weakened by steroids or low sex hormones.
Choose healthy fats – Prefer olive oil, nuts, seeds, and fish rather than heavy fried foods to control weight and protect the heart.
Limit very salty processed foods (unless extra salt is prescribed) – Many people with CAH need some extra salt when young, but junk food salt can still be unhealthy. Follow your endocrinologist’s specific advice.
Avoid sugary drinks and ultra-processed snacks – These can cause rapid weight gain, especially during steroid treatment, making blood-pressure and diabetes risks higher.
Limit alcohol (for adults) and avoid smoking/vaping – These harm the liver, heart, and bones and can interact with medicines.
Stay well hydrated – Good fluid intake helps blood pressure and kidney function, especially in salt-wasting forms of CAH or during hot weather.
Watch weight carefully – Regular weight and waist checks can show early problems from high steroid doses, so diet can be adjusted in time.
Avoid unproven “hormone herbs” or internet pills – Some products claim to change sex hormones, but they may be dangerous or interfere with prescribed treatments. Always ask your doctor before using them.
Work with a dietitian when possible – A dietitian who understands endocrine conditions can personalize eating plans and make food both healthy and enjoyable.
Frequently asked questions (FAQs)
1. Is “pseudohermaphrodism” the right word to use today?
No. Modern medical groups recommend using “differences (or disorders) of sex development (DSD)” instead of “pseudohermaphrodism” because the old word is confusing and can feel offensive.
2. Can DSD be cured?
Most DSD conditions are genetic or structural and cannot be fully “cured”, but they can be managed very well. Hormones, surgeries when truly needed, and strong psychological support can give good quality of life.
3. Will my child’s gender identity be the same as the sex assigned at birth?
Many people with DSD are happy with their assigned sex, but some are not. That is why careful, slow decisions and regular psychological support are important, so the person can explore identity safely over time.
4. Are early genital surgeries always necessary?
No. Many experts now suggest delaying non-urgent genital surgeries until the person is old enough to take part in decisions, except when surgery is needed for health reasons (for example, to allow urine or menstrual flow).
5. Can someone with DSD have children in the future?
Some can have biological children naturally, some may need assisted reproductive technology, and others may not be able to be genetic parents but can still be loving parents through adoption or other paths. This depends on the specific diagnosis.
6. Are testosterone or estrogen treatments lifelong?
If a person’s gonads cannot make enough hormones, then yes, hormone replacement is usually lifelong, with doses adjusted over time. Regular monitoring keeps treatment safe.
7. Are these hormones safe?
When used correctly under specialist care, hormone treatments are generally safe but can have side effects, such as blood-pressure changes, clot risk, or bone effects. That is why blood tests and check-ups are regular and important.
8. Can food or supplements change my chromosomes or sex organs?
No. Diet and supplements can support general health and bones, but they cannot change chromosomes, gonad type, or basic sex anatomy. They are helpers, not cures.
9. Is DSD the same as being transgender?
No. DSD refers to differences in sex chromosomes, gonads, or genitalia. Being transgender refers to a mismatch between gender identity and sex assigned at birth. A person with DSD can also be transgender, but many are not.
10. Does everyone with DSD need surgery?
No. Some people never need surgery. Decisions depend on health risks (like tumors or blockage) and the person’s own wishes about function and appearance.
11. How often should people with DSD see a doctor?
In childhood, visits may be every few months. Later, yearly or twice-yearly visits are common, plus extra visits if new symptoms appear. Long-term follow-up is essential.
12. Can people with DSD live normal, happy lives?
Yes. With respectful care, access to good information, and emotional support, most people with DSD can study, work, have relationships, and lead full lives. Challenges come more from stigma than from the condition itself.
13. Where can families find trustworthy information?
Reliable sources include endocrine and pediatric societies, DSD clinics, and patient-support organizations recommended by your doctor, rather than random internet posts or commercial “cure” sites.
14. Is it my fault or my parents’ fault that I have DSD?
No. DSD is not the fault of the child or the parents. It is usually due to genes or early biological development that no one can control.
15. What is the most important message for people with DSD?
Your body is not wrong; it is a natural variation. You deserve respectful, honest care, clear information in simple words, and a real voice in decisions about your own body and future.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: January 13, 2026.
