Primary Hypogonadism, Partial Alopecia, and Mullerian Hypoplasia: Report of a Third Family and Review

TATAR A., OCAK Z., TATAR A., YEŞİLYURT A., BÖREKÇİ B., ÖZTAŞ S.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.3, ss.501-504, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1002/ajmg.a.32645
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.501-504
  • Anahtar Kelimeler: autosomal recessive, partial alopecia, hypogonadism, Mullerian hypoplasia, HYPERGONADOTROPIC HYPOGONADISM, MENTAL-RETARDATION, DIABETES-MELLITUS, DEAFNESS, DISORDER, ANOSMIA, SIBS
  • Atatürk Üniversitesi Adresli: Evet

Özet

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. (C) 2009 Wiley-Liss, Inc.