title: Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review.
abstract: Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, absence of breast tissue, absent ovaries, mild-moderate dorsal kyphosis, thin upper lip and unilateral sensorioneural deafness in one of them. They were the product of a Turkish consanguineous marriage. The clinical course for our patients is similar to two families reported by Al-Awadi et al. [Al-Awadi et al. (1985) Am J Med Genet 22:619-622] and Megarbane et al. [Megarbane et al. (2003) Am J Med Genet Part A 119A:214-217]. This report supports the literature by proposing an autosomal recessive syndrome which was firstly reported by Al-Awadi et al. [Al-Awadi et al. (1985) Am J Med Genet 22:619-622]. This condition may be due to a founder mutation.
authors.affiliation: Department of Medical Genetics, School of Medicine, Ataturk University, Erzurum, Turkey. dragtatar@hotmail.com
authors.forename: Abdulgani
authors.initials: A
authors.lastname: Tatar
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Ocak
authors.forename: Arzu
authors.initials: A
authors.lastname: Tatar
authors.forename: Ahmet
authors.initials: A
authors.lastname: Yesilyurt
authors.forename: Bunyamin
authors.initials: B
authors.lastname: Borekci
authors.forename: Sitki
authors.initials: S
authors.lastname: Oztas
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000505:Alopecia / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D009095:Mullerian Ducts / Q000002:abnormalities*; D035781:Siblings; D055815:Young Adult