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Синдром первинного гіпергонадотропного гіпогонадизму - часткової алопеції

ORPHA:2232· ICD-10 E28.3· Primary hypergonadotropic hypogonadism-partial alopecia syndrome

Визначення(English summary)

A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mûllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partical scalp alopecia.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Neonatal