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J Med Genet. 1983 June; 20(3): 216–219.
PMCID: PMC1049050

A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.


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.

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Selected References

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  • Crandall BF, Samec L, Sparkes RS, Wright SW. A familial syndrome of deafness, alopecia, and hypogonadism. J Pediatr. 1973 Mar;82(3):461–465. [PubMed]
  • Robinson GC, Johnston MM. Pili torti and sensory neural hearing loss. J Pediatr. 1967 Apr;70(4):621–623. [PubMed]
  • Males JL, Townsend JL, Schneider RA. Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function. Arch Intern Med. 1973 Apr;131(4):501–507. [PubMed]
  • SOHVAL AR, SOFFER LJ. Congenital familial testicular deficiency. Am J Med. 1953 Mar;14(3):328–348. [PubMed]

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