Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.

Epidemiology

So far, it has been described in seven patients (six females and one male) from three families.

Clinical description

Müllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia and primary amenorrhea were described in the females. The male appeared to have germinal cell aplasia. All patients displayed partial scalp alopecia, and axillary and pubic hair was sparse or absent in the females but normal in the male patient. Additional findings in some of the female patients included sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis and mild intellectual deficit.

Genetic counseling

Transmission was autosomal recessive.