Familial hypogonadism syndrome 4

General: Defect in testosterone biosynthe 656d34g sis.

Ocular: Progressive visual loss to complete blindness beginning shortly after birth; cataract; retinal degeneration.

Clinical: Partial deafness (neural type); obesity; shortness of stature; normal virilization.

Jenner MR, et al. Hormonal changes in puberty. IV. Plasma estradiol, LH and FSH in prepubertal children, pubertal females, and in precocious puberty, premature thelarche, hypogonadism, and in a child with a feminizing ovarian tumor. J Clin Endocrinol Metab 1972; 34:521.

Lubinsky MS. Cataracts and testicular failure in 3 brothers. Am J Med Genet 1983; 16:149-l52.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Weinstein RL, et al. Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities. N Engl J Med 1969; 281:969.