Autosomal Dominant Isolated Somatotropin (Growth Hormone) Deficiency (IGHD Type II)

Other names
Types
Causes
Common Symptoms and Signs
Diagnostic Tests
Non-pharmacological treatments (therapies & other measures)
Drug treatments
Dietary molecular supplements
Immunity-booster / regenerative / stem-cell drugs
Surgeries (when and why)
Preventions
When to see a doctor (or go urgently)
Diet: what to eat and what to avoid
Frequently asked questions

Autosomal dominant isolated somatotropin deficiency—often called isolated growth hormone deficiency type II (IGHD-II)—is a genetic condition where the pituitary gland makes too little growth hormone (GH) because of changes (variants) in the GH1 gene. “Autosomal dominant” means a single altered copy of the gene can cause the condition and can be passed from one parent to a child. Children usually present in early childhood with short stature, delayed bone age, and normal body proportions; MRI often shows a small (hypoplastic) anterior pituitary, and other pituitary hormones are usually normal. Treatment is recombinant human growth hormone (rhGH), which can improve height when started early. Frontiers+2MedlinePlus+2

In IGHD-II, the most common mechanism is a splicing error in the GH1 gene that produces an abnormal “dominant-negative” GH isoform (often called 17.5-kDa GH) that harms normal GH-producing cells. This reduces overall GH release even though a small amount may still be detectable in blood. PubMed+2PMC+2

Autosomal dominant isolated growth hormone deficiency—often shortened to IGHD type II—is a genetic condition in which the body does not make enough growth hormone (GH) even though other pituitary hormones are usually normal. “Isolated” means the problem mainly affects GH; “autosomal dominant” means a change in just one copy of the responsible gene can cause the disorder and can be passed from an affected parent to a child. Children with IGHD type II are typically shorter than peers, grow more slowly than expected, and may have a small pituitary gland on brain MRI. Many have detectable but low GH levels and respond well to treatment with recombinant human growth hormone (rhGH). Over time, a few people may develop other pituitary hormone problems, so ongoing follow-up matters. OUP Academic+2rarediseases.info.nih.gov+2

A key biological detail is that most families with IGHD type II have a change in the GH1 gene that disrupts how the GH message is spliced (the cell’s “editing” step before making protein). This often causes skipping of exon 3 and production of a shorter, abnormal 17.5-kDa GH isoform. That abnormal protein “clogs the system,” blocking secretion of normal GH from the pituitary (a dominant-negative effect), which explains why one changed gene copy is enough to cause deficiency. GenScript+3OUP Academic+3PMC+3

Other names

This condition appears in clinics and publications under several interchangeable labels:

Isolated Growth Hormone Deficiency, Type II (IGHD II)
Autosomal Dominant Isolated Growth Hormone Deficiency
Familial GH deficiency, autosomal dominant form
GH1-related IGHD (dominant-negative splice variant)

All of these point to the same core idea: a dominantly inherited, primarily GH-specific deficiency, most often due to GH1 splicing defects. OUP Academic+1

Types

Doctors traditionally group isolated GH deficiency into four classic clinical types based on inheritance and severity:

Type IA (autosomal recessive) – often complete GH absence from birth, severe short stature.
Type IB (autosomal recessive) – partial deficiency, may involve GH1 or GHRHR genes.
Type II (autosomal dominant) – the topic of this article; variable short stature with low but detectable GH.
Type III (X-linked) – GH deficiency occurring with immune problems in some families (e.g., BTK-related).

Modern genetics has added more genes and subtypes, but type II remains the classic autosomal dominant form. PMC+2OUP Academic+2

Causes

Note: In IGHD type II, “causes” mostly mean gene changes that alter GH production or release. The first ten are well-supported genetic mechanisms. The remainder summarize additional pathways, rare variants, or mechanistic nuances seen in case reports or modern reviews of the GH axis.

GH1 splice-site mutations (exon 3 skipping).
Changes near intron–exon boundaries of GH1 make the cell skip exon 3 during splicing. The resulting 17.5-kDa GH acts as a dominant-negative protein that blocks secretion of normal GH, leading to deficiency in carriers. OUP Academic+1
GH1 intronic enhancer or regulatory mutations.
Variants deeper in introns can misdirect the splicing machinery or reduce correct GH1 message levels, lowering the output of functional GH. GenScript
GH1 exonic mutations that favor abnormal isoforms (e.g., 20-kDa or 17.5-kDa).
Some exonic changes bias the transcript toward shorter GH proteins with poor secretion or function, again exerting dominant-negative effects. OUP Academic+1
GH1 promoter variants (reduced gene expression).
Promoter changes can dial down GH1 transcription. Even partial reductions may matter clinically when combined with dominant-negative isoforms. J Clin Res Pediatr Endocrinol
GHSR (growth hormone secretagogue receptor) mutations—dominant forms.
Rare families carry GHSR variants that blunt the receptor’s constitutive or ghrelin-stimulated activity, decreasing GH release despite intact GH1. Several reports show autosomal dominant inheritance with partial IGHD and short stature. OUP Academic+1
Dominant negative interference in the secretory pathway.
Abnormal GH isoforms accumulate in the endoplasmic reticulum/Golgi, hampering processing and secretion of normal GH in the same cells. OUP Academic
Aberrant mRNA splicing fidelity (cell-wide splicing balance).
Some individuals may have genetic backgrounds that favor mis-splicing of GH1 transcripts (exon 3 skipping), tipping the balance toward insufficient normal GH. PMC
Copy-number changes within the GH1 cluster altering splicing context.
Duplications/deletions in the GH gene cluster can disturb normal GH1 splicing or expression, producing a dominant phenotype in carriers. J Clin Res Pediatr Endocrinol
Trans-acting splicing factor variants (hypothesized).
Although better established for recessive syndromes (e.g., RNPC3 in IGHD type V), milder or dominant modifiers of splicing machinery could worsen GH1 mis-splicing in some families. (Inference from broader splicing literature.) J Clin Res Pediatr Endocrinol
Misfolding-triggered intracellular degradation of GH.
Mutant GH can fold poorly, be retained, and be degraded inside the cell, lowering secreted GH despite ongoing gene transcription. OUP Academic
Dominant-negative dimerization effects.
GH molecules interact during packaging; abnormal isoforms may “poison” this step and reduce output of the normal protein. OUP Academic
Pituitary development subtly affected by GH1 defects.
Even when other pituitary hormones are normal, small differences in pituitary growth (e.g., mild hypoplasia on MRI) can appear along with GH1-driven IGHD II. rarediseases.info.nih.gov+1
Ghrelin pathway imbalance beyond GHSR coding change.
Upstream or downstream regulators of ghrelin signaling may act as dominant modifiers to suppress GH release (rarely documented, plausibly pathogenic). OUP Academic
Dominant epigenetic changes near GH1.
Methylation or chromatin changes that ride with a parental allele can reduce GH1 transcription in a dominant fashion in some lineages. (Mechanistic extrapolation from gene-regulation reviews.) J Clin Res Pediatr Endocrinol
Dominant negative effects on secretory granule biogenesis.
Abnormal GH can disrupt granule formation required for regulated secretion, lowering the amount of releasable GH. OUP Academic
Altered feedback loops (GH/IGF-1 axis).
Even normal somatotrophs may down-tune release when abnormal GH isoforms perturb feedback sensing, compounding the deficiency. OUP Academic
Co-segregating variants that change penetrance.
In some families, a GH1 splice variant plus another small-effect variant (e.g., in GHSR) can shape how strongly the deficiency shows up—still tracking as dominant overall. SpringerOpen
Domino effect toward multiple pituitary hormone deficiency (MPHD) over time.
A minority of people with IGHD II later show additional pituitary deficits, suggesting progressive or broader gland vulnerability. MDPI
De novo dominant GH1 mutations.
A child can be the first in the family to have IGHD II due to a new GH1 mutation; inheritance remains “autosomal dominant,” but family history is negative. MedlinePlus
Unknown dominant causes within the GH axis.
A subset of families show clear dominant inheritance with IGHD but lack known GH1/GHSR changes—implying undiscovered regulatory variants. Modern sequencing studies continue to uncover such mechanisms. Frontiers

Common Symptoms and Signs

Short stature compared to peers.
The most visible feature is height well below average for age and sex. Parents often notice a widening gap over school years. GH treatment usually narrows this gap. rarediseases.info.nih.gov
Slow growth velocity.
Height increases less each year than expected. Growth charts flatten. This is a key clinical clue to GH deficiency. OUP Academic
Delayed bone age.
Hand/wrist X-rays show bones that look “younger” than the child’s actual age, reflecting delayed maturation. OUP Academic
Baby or toddler with poor length gain.
In some, signs appear early with shorter length/height curves, even if weight is relatively preserved. OUP Academic
Mild central adiposity.
Children may have a softer look around the belly because GH helps regulate body fat distribution. OUP Academic
Low energy or exercise intolerance (subtle).
Some kids tire more quickly during sports because GH influences muscle and metabolism. OUP Academic
Younger facial appearance.
There can be a youthful facial look and smaller jaw size for age, in line with slower skeletal growth. OUP Academic
Small pituitary on MRI (not always).
Brain imaging may show a slightly small anterior pituitary or an ectopic posterior pituitary, but many scans are normal. rarediseases.info.nih.gov
Normal birth size (often) but slowdown later.
Unlike severe recessive forms, autosomal dominant IGHD often presents after infancy with progressive short stature. OUP Academic
Low IGF-1 and IGFBP-3 for age.
Because GH drives these liver-made growth factors, levels tend to be low, helping doctors suspect GH deficiency. OUP Academic
Suboptimal GH rise on stimulation tests.
Provocative tests that should trigger a GH spike show blunted responses. OUP Academic
Normal thyroid, cortisol, and puberty at first.
“Isolated” means other pituitary hormones are typically okay early on, but periodic re-checks are wise. OUP Academic
Family history of similar short stature.
Because this form is dominant, a parent or grandparent may have been short, diagnosed late, or untreated. OUP Academic
Good response to rhGH therapy.
Once treated, many children catch up significantly, especially with early diagnosis and adherence. rarediseases.info.nih.gov
In a minority, other pituitary deficits later.
Some people develop additional hormone shortages across adolescence or adulthood; hence long-term follow-up. MDPI

Diagnostic Tests

A) Physical-exam–based assessments

Growth chart review.
Plotting height and weight over time shows whether growth has slowed. A downward crossing of percentiles is a red flag. OUP Academic
Body proportions check.
Doctors compare sitting height to leg length and arm span to height to be sure the short stature is proportionate, which fits GH deficiency better than skeletal dysplasias. OUP Academic
Puberty staging (Tanner staging).
Ensures delayed growth is not purely from delayed puberty and screens for additional pituitary issues that might emerge. OUP Academic
Nutritional and systemic health exam.
Looks for clues of chronic illness or malnutrition that can mimic GH deficiency, ensuring an accurate diagnosis. OUP Academic

B) Manual/bedside tests and functional assessments

Mid-parental height comparison.
Estimated genetic target height from parents is compared with the child’s projected adult height; a large gap suggests a pathologic growth disorder. OUP Academic
Serial height velocity measurement.
Accurate stadiometer measurements every 3–6 months quantify how many centimeters per year a child grows, the most sensitive index of therapy response. OUP Academic
Clinical response trial (under specialist care).
In select cases, carefully monitored rhGH therapy with documented catch-up growth supports the diagnosis when other tests are borderline. OUP Academic

C) Laboratory and pathological tests

Serum IGF-1 (age- and sex-adjusted).
Usually low in GH deficiency; helps screen but is not perfect, especially in younger children. OUP Academic
IGFBP-3 level.
Often low alongside IGF-1; useful in younger ages where IGF-1 is naturally variable. OUP Academic
GH stimulation (provocation) tests.
Medications like clonidine, arginine, glucagon, or insulin are used to “stress” the pituitary; an inadequate GH peak supports the diagnosis. Testing is standardized and done by endocrinology teams. OUP Academic
Baseline GH and spontaneous secretion profiles.
Random GH is unreliable, but specialized centers may assess nocturnal GH pulses to complement other data. OUP Academic
Thyroid, cortisol, and other pituitary labs.
Even though IGHD type II is “isolated,” doctors exclude combined deficiencies and re-check over time. OUP Academic
Genetic testing for GH1.
Sequencing and splicing analysis (including intronic regions) look for exon 3 skipping variants and other GH1 changes typical of IGHD type II. OUP Academic+1
GHSR gene testing when GH1 is negative.
In families with clear dominant inheritance and a negative GH1 test, GHSR sequencing can reveal pathogenic variants affecting GH release. SpringerOpen+1
Broader genetic panels/exome sequencing.
If GH1/GHSR are negative, clinicians may order larger panels to detect rarer or novel contributors to isolated GH deficiency. Frontiers

D) Electrodiagnostic and related functional studies

Metabolic and exercise testing (indirect).
While not classic “electrodiagnostics,” some centers use standardized exercise or metabolic assessments to document low capacity linked to GH deficiency and track improvement on therapy. These complement, not replace, standard endocrine tests. OUP Academic
Sleep studies (context-dependent).
If sleep problems or suspected obstructive sleep apnea are present, studying sleep can be relevant, as poor sleep affects GH secretion and growth. This guides supportive care around the core diagnosis. OUP Academic

E) Imaging tests

Left hand/wrist X-ray for bone age.
Compares bone maturity to chronological age; delayed bone age is common in GH deficiency and aids timing of therapy. OUP Academic
Pituitary MRI.
Evaluates pituitary size, shape, and stalk; IGHD type II may show a small anterior pituitary or be normal. MRI also rules out other causes of short stature. rarediseases.info.nih.gov
Spine/pelvis X-rays or targeted imaging (when indicated).
Used to exclude skeletal dysplasias or chronic disease if physical exam suggests another cause; ensures the diagnosis truly is isolated GH deficiency. OUP Academic

Non-pharmacological treatments (therapies & other measures)

Note: These measures support health and optimize response to GH therapy; they do not replace GH in genetic IGHD-II.

Growth monitoring & early endocrine referral
Purpose: Detect growth faltering early and start evaluation/treatment promptly. Mechanism: Serial height/weight and growth-velocity charts identify deviation from percentiles; early endocrine referral accelerates testing and GH start. American Academy of Family Physicians
Family genetic counseling
Purpose: Explain autosomal-dominant inheritance (50% transmission risk) and options for family planning and testing. Mechanism: Pedigree review and targeted GH1 testing. PubMed
Nutrition optimization (adequate calories/protein)
Purpose: Ensure energy and amino acids needed for growth and for IGF-1 production under GH therapy. Mechanism: Corrects under-nutrition and supports lean-mass accretion. World Health Organization+1
Vitamin D sufficiency
Purpose: Support bone mineralization during catch-up growth. Mechanism: Vitamin D increases intestinal calcium absorption and bone mineralization. Office of Dietary Supplements+1
Zinc adequacy
Purpose: Support growth and immune function. Mechanism: Zinc is required for protein/DNA synthesis; deficiency impairs growth velocity. Office of Dietary Supplements
Sleep hygiene
Purpose: Optimize nocturnal GH pulses and adherence to weekly/daily injections. Mechanism: Deep sleep supports physiologic GH secretion patterns and child wellbeing. OUP Academic
Psychosocial support & school accommodations
Purpose: Reduce stigma, support adherence, and address psychosocial impacts of short stature. Mechanism: Counseling and school plans to support participation. OUP Academic
Physical activity appropriate for age
Purpose: Promote bone and muscle development; avoid excessive joint stress if severe short stature. Mechanism: Weight-bearing activity stimulates bone, complements GH effects. OUP Academic
Injection-technique training and device selection
Purpose: Improve adherence and safety with pens/auto-injectors. Mechanism: Teach rotation of sites, device use, and storage. FDA Access Data+2FDA Access Data+2
Routine monitoring for GH adverse effects
Purpose: Detect benign intracranial hypertension, SCFE, glucose intolerance, edema. Mechanism: Scheduled clinical and lab follow-up. FDA Access Data+1
Thyroid screening/treatment if needed
Purpose: Hypothyroidism blunts growth response. Mechanism: Periodic TSH/FT4; treat if abnormal. OUP Academic
MRI when indicated
Purpose: Exclude structural lesions if phenotype atypical; most IGHD-II have normal or hypoplastic anterior pituitary. Mechanism: Pituitary MRI protocol. Frontiers
Scoliosis surveillance
Purpose: Catch progression during rapid growth. Mechanism: Clinical screening during therapy. FDA Access Data
Nutrition counseling for calcium
Purpose: Support skeletal mineral accrual. Mechanism: Adequate calcium intake via diet. Office of Dietary Supplements
Sick-day plans & injection schedules
Purpose: Maintain adherence during intercurrent illness. Mechanism: Caregiver education and reminders. OUP Academic
Transition planning to adult care
Purpose: For childhood-onset GHD persisting into adulthood. Mechanism: Re-testing and adult-GH consideration. Endocrine Practice
Regular IGF-1-guided dose adjustments
Purpose: Keep IGF-1 in target range for safety/efficacy. Mechanism: Lab-guided titration. FDA Access Data
Education on safe storage/handling of pens
Purpose: Preserve potency and avoid dosing errors. Mechanism: Follow labeled refrigeration and pen instructions. FDA Access Data+1
Weight management if overweight
Purpose: Excess adiposity can blunt GH action and increase insulin resistance. Mechanism: Diet/activity coaching. OUP Academic
Immunization according to schedule
Purpose: General child health while on therapy. Mechanism: Routine vaccines per national guidelines. OUP Academic

Drug treatments

Key point: In IGHD-II, the standard of care is recombinant human growth hormone (rhGH). Below are the major FDA-approved somatropin products and long-acting GH analogs; all details are summarized from their labels. Dosing is individualized—clinicians titrate to growth/IGF-1 and safety.

Genotropin® (somatropin)
Class: rhGH. Dosage/Time: typical pediatric total weekly dose split daily; label suggests 0.16–0.24 mg/kg/week SC in 6–7 injections (prescriber individualizes). Purpose: Replace deficient GH to normalize growth. Mechanism: Binds GH receptor → ↑IGF-1 → bone/linear growth. Common side effects: injection reactions, edema, arthralgia; warnings include glucose intolerance, intracranial hypertension, slipped capital femoral epiphysis (SCFE). FDA Access Data+1
Norditropin® (somatropin)
Class: rhGH. Dosage/Time: individualized pediatric dosing; daily SC dosing using pen; adult dosing differs. Purpose/Mechanism/Adverse effects: as above (class-consistent). FDA Access Data+1
Humatrope® (somatropin)
Class: rhGH. Dosage/Time: daily SC, dose individualized by age/weight and response; indicated for pediatric GHD and other short-stature indications. Side effects/warnings as class. FDA Access Data+1
Saizen® (somatropin)
Class: rhGH. Dosage/Time: daily SC; supplied with injection devices (easypod). Purpose/Mechanism/Adverse effects: class-consistent. FDA Access Data+1
Zomacton® (somatropin)
Class: rhGH. Dosage/Time: daily SC; vial or needle-free device options; warnings include glucose intolerance and benign intracranial hypertension risks as class. FDA Access Data+1
Omnitrope® (somatropin)
Class: rhGH. Dosage/Time: pediatric dose individualized by growth response; daily SC. Side effects/warnings as class. FDA Access Data+1
Nutropin AQ® (somatropin)
Class: rhGH. Dosage/Time: individualized daily SC dosing; not for growth after epiphyseal closure; standard class warnings. FDA Access Data+1
Skytrofa® (lonapegsomatropin-tcgd) — long-acting once weekly prodrug of somatropin
Class: long-acting GH. Dosage/Time: once weekly SC with auto-injector; dose individualized by weight and response. Purpose/Mechanism: provides continuous GH exposure via prodrug linker. Side effects: similar class risks; device-specific instructions. FDA Access Data+1
Ngenla® (somatrogon-ghla) — long-acting once weekly GH
Class: GH analog (albumin-binding). Dosage/Time: once weekly SC with prefilled pen; pediatric indication. Side effects/warnings as GH class. FDA Access Data+1
Sogroya® (somapacitan-beco) — long-acting once weekly GH (adult indication; used in transition when indicated)
Class: GH analog with albumin-binding moiety. Dosage/Time: once weekly SC; adult GHD indication (consult label for use during transition to adult care). Side effects/warnings as GH class. FDA Access Data+1
Saizen® cartridges/easypod details (device adherence aid)
Purpose: improve adherence and accurate dosing; dosing remains individualized daily SC. Mechanism: electronic auto-injector with logs/education. Side effects: class-consistent. FDA Access Data
Zomacton® updated label (abuse/overdose cautions)
Purpose: reiterates safety cautions around non-medical use; overdose may cause hypo- then hyperglycemia. FDA Access Data

The above represent the core FDA-approved GH options used in clinical practice for pediatric GHD (daily somatropin brands) and the modern once-weekly GH formulations (Skytrofa, Ngenla; Sogroya adult). All require clinician-guided titration to growth and IGF-1 targets and careful safety monitoring per label. FDA Access Data+2FDA Access Data+2

Typical pediatric dosing principle (from multiple labels): total weekly dose is weight-based and divided daily (for daily products) or given once weekly (for long-acting preparations); therapy is supervised by an experienced clinician. FDA Access Data+1

Key class warnings (summary): risk of glucose intolerance/diabetes, benign intracranial hypertension (headache/visual changes), SCFE/avascular necrosis (hip/knee pain), progression of scoliosis, edema, neoplasm considerations, and contraindications (active malignancy, acute critical illness). See the chosen product’s label for full details. FDA Access Data+1

Dietary molecular supplements

These do not treat genetic IGHD-II but can support growth, bone health, and overall nutrition while on GH therapy. Always coordinate with the child’s clinician/dietitian.

Vitamin D – Typical pediatric intake 600 IU/day (≥1 year), individualized if deficient. Function/mechanism: increases calcium absorption; supports bone mineralization during catch-up growth. Office of Dietary Supplements+1
Calcium (diet first; supplements if needed) – Dosage per age; supports skeletal mineral accrual under GH. Mechanism: mineral substrate for bone. Office of Dietary Supplements
Zinc – Dose individualized; deficiency correction can improve growth velocity in deficient children. Mechanism: cofactor for protein/DNA synthesis. Office of Dietary Supplements
Iron (if iron-deficient) – Treat iron deficiency to support energy and growth; mechanism: hemoglobin and cellular metabolism. Office of Dietary Supplements
Iodine (via iodized salt/foods) – Ensures thyroid hormone synthesis, which is essential for normal growth and GH response. Mechanism: thyroid hormone production. Office of Dietary Supplements
Protein-rich foods / whey or similar if diet inadequate – Diet-based protein to meet age needs; mechanism: substrate for lean mass accrual. Karger
Omega-3 (dietary) – Supports general health; consider diet sources (fish); mechanism: membrane and anti-inflammatory roles. Office of Dietary Supplements
Folate/B-complex (dietary adequacy) – Supports cell division and growth. Mechanism: nucleotide synthesis. Office of Dietary Supplements
Magnesium (dietary adequacy) – Cofactor in bone and energy metabolism. Office of Dietary Supplements
Probiotics (dietary yogurt/fermented foods) – Gut health support in children with poor appetite; evidence context-specific. Mechanism: microbiome modulation. Office of Dietary Supplements

Immunity-booster / regenerative / stem-cell drugs

There are no FDA-approved “immunity-booster,” regenerative, or stem-cell drugs indicated to treat IGHD-II. The FDA-approved therapies for pediatric GHD are GH products (daily somatropin brands and once-weekly GH analogs) listed above. Providing drug names here would be misleading and unsafe. Use only FDA-approved GH therapies under specialist care. FDA Access Data+2FDA Access Data+2

Surgeries (when and why)

Surgery is not a treatment for genetic IGHD-II. Procedures are rare and only considered if imaging finds a lesion or if another disorder is suspected.

Transsphenoidal surgery (if a pituitary mass is discovered) – Procedure: endoscopic removal of sellar lesion. Why: relieve compression; not typical in IGHD-II. OUP Academic
MRI-guided biopsy (rare) – Procedure: obtain tissue if atypical lesion. Why: confirm diagnosis. OUP Academic
Orthopedic management of SCFE – Procedure: pinning if slip occurs. Why: GH class risk factor; treat promptly. FDA Access Data
Ophthalmologic evaluation/intervention for raised ICP – Procedure: diagnostic/therapeutic steps. Why: intracranial hypertension risk on GH. FDA Access Data
Dental/orthodontic care – Procedure: routine with attention to jaw growth/occlusion during catch-up growth. Why: optimize function/appearance. OUP Academic

Preventions

Early growth screening and referral to reduce delayed diagnosis. American Academy of Family Physicians
Adherence to GH therapy using appropriate pens/auto-injectors. FDA Access Data
Rotate injection sites and follow storage rules to prevent lipodystrophy/potency loss. FDA Access Data
Monitor for headaches/visual changes to catch intracranial hypertension early. FDA Access Data
Screen for hip/knee pain or limp to detect SCFE early. FDA Access Data
Check thyroid function periodically to maintain growth response. OUP Academic
Ensure adequate vitamin D/calcium for bone health. Office of Dietary Supplements
Maintain healthy weight and activity to optimize GH sensitivity. OUP Academic
Transition planning to adult care when appropriate. Endocrine Practice
Vaccinations per schedule to keep overall health stable during therapy. OUP Academic

When to see a doctor (or go urgently)

See a pediatric endocrinologist promptly if your child’s height is below the 3rd percentile, growth velocity slows, or there’s delayed bone age—especially with a family history of short stature, because IGHD-II is autosomal dominant. Early evaluation improves outcomes on GH. American Academy of Family Physicians+1

Seek urgent assessment if a child on GH develops severe headaches, vomiting, vision changes, hip/knee pain or limping, rapid scoliosis progression, or signs of glucose intolerance (excess thirst/urination). These can signal known, label-listed adverse effects that require prompt management. FDA Access Data

Diet: what to eat and what to avoid

Eat: balanced calories with sufficient protein (lean meats, dairy, legumes), calcium- and vitamin-D-rich foods (milk/yogurt/fortified options, fish), zinc sources (meat, beans, nuts), fruits/vegetables, whole grains, and fluids to maintain overall health and support bone/muscle during GH therapy. Office of Dietary Supplements+1

Avoid/limit: very low-calorie diets, highly processed sugars/fats that displace nutrients, and excessive sugary drinks which may worsen insulin resistance—an on-label caution with GH therapy. FDA Access Data

Frequently asked questions

Is IGHD-II inherited?
Yes. One altered GH1 gene copy can cause the condition and can be passed from an affected parent to a child. PubMed
Will my child catch up in height with treatment?
Most children improve growth velocity and adult height with timely rhGH under specialist care; results vary by age at start and dose/IGF-1 response. OUP Academic
How is IGHD-II confirmed?
By growth pattern, low IGF-1, failed GH stimulation tests, and genetic testing for GH1 variants. OUP Academic
Is weekly GH as effective as daily GH?
Once-weekly long-acting GH (e.g., lonapegsomatropin, somatrogon) is FDA-approved for pediatric GHD; clinicians choose based on age, response, and safety—follow the label. FDA Access Data+1
How is the GH dose chosen?
Weight-based starting doses are adjusted by growth and IGF-1 to remain in target range and minimize side effects. FDA Access Data+1
What side effects should we watch for?
Headache/vision changes (intracranial hypertension), hip/knee pain/limp (SCFE), edema, arthralgia, glucose intolerance, and injection reactions. FDA Access Data
Can nutrition replace GH therapy?
No. Good nutrition supports growth but does not correct genetic GH deficiency; GH therapy is the standard. OUP Academic
Does GH cause cancer?
Active malignancy is a contraindication; long-term cancer risk requires clinical judgment and surveillance; use labels and guidelines to guide care. FDA Access Data
Will GH affect blood sugar?
GH may reduce insulin sensitivity; clinicians monitor glucose and adjust as needed. FDA Access Data
Do we need thyroid tests?
Yes. Hypothyroidism reduces growth response; test periodically and treat if needed. OUP Academic
What if we miss a dose?
Follow the specific product label or clinician instructions for missed-dose handling (varies for daily vs weekly products). FDA Access Data
Are there pills instead of injections?
No FDA-approved oral GH; approved treatments are injections (daily or weekly). FDA Access Data+1
How long is treatment?
Typically until near adult height or epiphyseal closure; some need reassessment and adult GH if persistent deficiency. Endocrine Practice
Should siblings be tested?
Because inheritance is autosomal dominant, family counseling/testing may be appropriate. PubMed
Do devices matter?
Yes. Pens/auto-injectors can improve adherence and dosing accuracy; follow the specific device’s FDA-approved instructions. FDA Access Data+1

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