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Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: Report of a second family with additional findings
Author(s) -
Mégarbané A.,
GannagéYared M.H.,
Khalifé A.A.,
Fabre M.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20170
Subject(s) - hypergonadotropic hypogonadism , hypoplasia , microcephaly , müllerian mimicry , medicine , gynecology , endocrinology , pediatrics , anatomy , pathology , hormone
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.