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HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA

HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA

In 2 sisters and a brother, born of Jordanian parents related as first cousins once removed, Al-Awadi et al. (1985) observed hypergonadotropic hypogonadism and p...

In 2 sisters and a brother, born of Jordanian parents related as first cousins once removed, Al-Awadi et al. (1985) observed hypergonadotropic hypogonadism and partial alopecia (head hair only in the center of the scalp). One sister had absent gonads, and the other had streak ovaries. Their brother had hormonal and histologic findings consistent with germinal cell aplasia.

Megarbane et al. (2003) reported 2 sisters, born of first-cousin parents from Lebanon, who had primary hypergonadotropic hypogonadism associated with microcephaly, flat occiput, congenital partial alopecia with abnormal hair structures, absent or streak ovaries, and mullerian hypoplasia. The authors noted that these features were very close to those of the family described by Al-Awadi et al. (1985).

Tatar et al. (2009) reported 2 Turkish sisters, born of first-cousin parents, who had partial alopecia, primary hypogonadotropic hypogonadism and mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, thin upper lip, absence of breast tissue, absent ovaries, and mild to moderate dorsal kyphosis. One sister also had unilateral sensorineural deafness. Noting that the 3 families described to date came from the same geographic region (Jordan, Lebanon, and Turkey, respectively), Tatar et al. (2009) suggested that a founder mutation might be responsible for the condition.

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