Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: Report of a second family with additional findings

✍ Scribed by A. Mégarbané; M.H. Gannagé-Yared; A.A. Khalifé; M. Fabre

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 153 KB
• Volume: 119A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.20170

✦ Synopsis

Abstract

Two sisters with primary hypergonadotropic hypogonadism associated with microcephaly, flat occiput, partial alopecia, absent or streak ovaries, and Müllerian hypoplasia are reported. Their parents are first cousins. Despite some clinical differences, their features were very close to a family described with such an association by Al‐Awadi et al. [1985: Am J Med Genet 22:619–622] in Kuwait. © 2003 Wiley‐Liss, Inc.