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DefinitionAndrogen resistance syndrome (AIS) is a genetic condition where the body’s cells cannot “hear” or respond fully to male-type hormones called androgens (like testosterone and dihydrotestosterone,...
DefinitionAndrogen Insensitivity Syndrome is a genetic condition where a person with one X and one Y chromosome (46,XY) makes typical amounts of male hormones (androgens) but...
DefinitionANOTHER syndrome is a rare medical condition that affects individuals in various ways. This comprehensive guide aims to provide simple and easy-to-understand information about ANOTHER syndrome....
DefinitionAPECED Syndrome (autoimmune?-polyendocrinopathy-candidiasis-ectodermal-dystrophy) MEDAC syndrome is an older, shorthand name used by some clinicians for the condition now best known as Autoimmune? Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) or...
DefinitionAromatase Excess Syndrome (AEXS) is a rare, usually autosomal-dominant genetic condition where the body makes too much aromatase—the enzyme that turns androgens (male-type hormones) into estrogens...
DefinitionArrhenoblastoma, also known as Sertoli-Leydig cell tumor, is a rare type of ovarian tumor that primarily affects women. In this comprehensive guide, we’ll simplify the complex...
DefinitionAspartylglucosaminidase (AGA) deficiency is a rare, inherited lysosomal storage disorder. The body lacks enough of an enzyme called aspartylglucosaminidase (AGA). This enzyme normally helps break down...
DefinitionAspartylglucosaminuria (AGU) is a rare, inherited condition in which a “recycling” enzyme inside cells—aspartylglucosaminidase (AGA)—does not work properly. Because of this enzyme problem, certain sugar-protein pieces...
DefinitionAtaxia–diabetes?–goiter?–gonadal insufficiency syndrome—better known as Bangstad syndrome—is an extremely rare, inherited disorder first described in 1989. It combines problems with movement and balance (ataxia), early insulin?-resistant...
DefinitionAthyreosis means a baby is born without any thyroid? gland at all. Because the thyroid? gland makes thyroid hormone, babies with athyreosis have primary congenital? hypothyroidism?...
DefinitionThis 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...
