A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.
Open Access
- 1 June 1983
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 20 (3) , 216-219
- https://doi.org/10.1136/jmg.20.3.216
Abstract
A distinct and previously undescribed syndrome has been observed in six Saudi Arabian patients from two highly inbred families. The parents were normal, indicating an autosomal recessive pattern of inheritance. All the patients have a distinctive facial appearance, hypogonadism, sparse or absent hair, diabetes mellitus, mental retardation, mild deafness, and variable S-T and T wave abnormalities on the electrocardiograph.This publication has 6 references indexed in Scilit:
- HYPOTHALAMIC HYPOGONADISM IN MYOTONIC-DYSTROPHY1981
- Hypogonadotropic Hypogonadism With Anosmia—Kallmann's SyndromeArchives of internal medicine (1960), 1973
- Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic functionArchives of internal medicine (1960), 1973
- A familial syndrome of deafness, alopecia, and hypogonadismThe Journal of Pediatrics, 1973
- Pili torti and sensory neural hearing lossThe Journal of Pediatrics, 1967
- Congenital familial testicular deficiencyThe American Journal of Medicine, 1953