Primary hypergonadotropic hypogonadism-partial alopecia syndrome

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Synonyms: Al Awadi-Farag-Teebi syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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