TY - JOUR
T1 - Familial kallmann’s syndrome with autosomal dominant inheritance, variable gonadotropin deficiency and subtle color vision defects
AU - Kauschansky, Arieh
AU - Seyler, L. Everett
AU - Marks, Lawrence E.
AU - Cain, William S.
AU - Genel, Myron
N1 - Funding Information:
* Supported in part by grants from the Medical Research Service of the VA and the Connecticut Research Foundation, and by NIH Grant ES00592 and NSF Grant BNS-76-09950. Clinical studies were performed in the Yale Children's Clinical Research Center supported by NIH Grant RR-00125.
PY - 1986/4
Y1 - 1986/4
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0022965233&partnerID=8YFLogxK
U2 - 10.1515/IJAMH.1986.2.2.81
DO - 10.1515/IJAMH.1986.2.2.81
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AN - SCOPUS:0022965233
SN - 0334-0139
VL - 2
SP - 81
EP - 98
JO - International Journal of Adolescent Medicine and Health
JF - International Journal of Adolescent Medicine and Health
IS - 2
ER -