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Keywords:

  • autosomal recessive;
  • alopecia;
  • hypogonadism;
  • Müllerian hypoplasia

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.