Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: Report of a second family with additional findings
Article first published online: 4 APR 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 119A, Issue 2, pages 214–217, 1 June 2003
How to Cite
Mégarbané, A., Gannagé-Yared, M.H., Khalifé, A.A. and Fabre, M. (2003), Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: Report of a second family with additional findings. Am. J. Med. Genet., 119A: 214–217. doi: 10.1002/ajmg.a.20170
- Issue published online: 8 MAY 2003
- Article first published online: 4 APR 2003
- Manuscript Accepted: 16 AUG 2002
- Manuscript Received: 10 JUN 2002
- Saint Joseph University, Beirut, Lebanon
- autosomal recessive;
- Müllerian hypoplasia
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.