Ataxia–diabetes–goiter–gonadal insufficiency syndrome—better known as Bangstad syndrome—is an extremely rare, inherited disorder first described in 1989. It ...

Hypothyroidism and cleft palate syndrome is a rare genetic condition in which a baby is born with an under-active or missing thyroid gland (congenital ...

This condition is a genetic syndrome. Babies are born without a thyroid gland or with a very tiny thyroid (so they have congenital hypothyroidism). They also ...

Familial infantile hypercalcemia (FIH) is a rare, inherited problem where a baby or young child has too much calcium in the blood (hypercalcemia) even though ...

Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic condition that starts at birth or soon after. The pancreas makes too much insulin ...

ABCC8-related congenital hyperinsulinism is a genetic condition where the pancreas makes too much insulin even when blood sugar is low. The extra insulin ...

Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic condition in which the pancreas makes too much insulin even when blood sugar is ...

Autosomal-recessive hyperinsulinemic hypoglycemia from Kir6.2 (KCNJ11) deficiency is a rare genetic disorder where the beta-cells of the pancreas release too ...

KCNJ11-related congenital hyperinsulinism is a rare condition where a baby’s pancreas releases too much insulin. Insulin lowers blood sugar. When insulin is ...

Pseudohypoaldosteronism (PHA) is a group of rare conditions where the body makes aldosterone normally (often in high amounts) but kidney or other tissues do ...

IGHD-II is a rare, inherited form of growth hormone (GH) deficiency. “Autosomal dominant” means a child can have the condition if they inherit a single changed ...

Autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency (IGHD type II) is a genetic condition where the pituitary gland does not make ...

Autosomal dominant isolated somatotropin deficiency—often called isolated growth hormone deficiency type II (IGHD-II)—is a genetic condition where the ...

Autosomal dominant hyperinsulinism from KCNJ11 (Kir6.2) loss-of-function means the potassium channels (called KATP channels) on the beta cells in the pancreas ...

Autoimmune Addison’s disease happens when your immune system mistakenly attacks the outer layer of your adrenal glands. The damaged glands can’t make enough ...

Autoimmune primary adrenal insufficiency happens when your immune system mistakenly attacks your own adrenal glands (two small glands that sit on top of the ...

Autoimmune Polyglandular Syndrome Type 3 (APS-3) means a person has autoimmune thyroid disease (Hashimoto’s thyroiditis or Graves’ disease) together with at ...

Autoimmune Polyendocrine Syndrome type 3 (APS-3) means a person has autoimmune thyroid disease (like Hashimoto’s or Graves’ disease) together with at least one ...

Autoimmune polyendocrinopathy type 3 (APS-3) is a condition where the immune system mistakenly attacks the thyroid gland and at least one other organ, causing ...

Endocrine diseases are disorders of the endocrine system. The branch of medicine associated with endocrine disorders is known as endocrinology. Hormones are ...