Familial kallmann’s syndrome with autosomal dominant inheritance, variable gonadotropin deficiency and subtle color vision defects

Arieh Kauschansky*, L. Everett Seyler, Lawrence E. Marks, William S. Cain, Myron Genel

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

We have studied a family with variable gonadotropin deficiency and color vision defects in which the father and all four children (3 males, 1 female) are affected while the mother is normal. The five affected family members achieved variable degrees of spontaneous, incomplete sexual development and all had low to borderline normal plasma levels of gonadal steroids and gonadotropins. The father had a classical red/green color vision defect and minor color vision defects were detected in 3 of the 4 children. Olfactory, auditory, somatic and neurologic defects were absent. LH and FSH responses to 3 hour constant infusions of LRH (0.55 ug/min.) in the 5 patients with hypogonadism were minimal or undetectable. When LRH infusions were repated after 6 days of priming with LRH (50 ug/im daily) for six days, the two males and the female who were retested showed no change in basal or LRH-stimulated LH, although basal or LRH-stimulated FSH improved slightly in the two males. This family demonstrates autosomal dominant inheritance of incompletely expressed hypogonadotropic hypogonadism and subtle color vision defects which, along with other associated deficiencies, can be used to distinguish Kallmann’s Syndrome from delayed adolescence.

Original languageEnglish
Pages (from-to)81-98
Number of pages18
JournalInternational Journal of Adolescent Medicine and Health
Volume2
Issue number2
DOIs
StatePublished - Apr 1986
Externally publishedYes

Funding

FundersFunder number
Connecticut Research Foundation
Medical Research Service
National Science FoundationRR-00125, BNS-76-09950
National Institutes of HealthES00592

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