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HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome).

Two men are described who fulfill the criteria for both the Kallmann and the fertile eunuch syndrome, and we report the erythrocyte and HLA phenotypes of these men and their children. There were no paternal exclusions noted in red blood cell phenotypes encompassing seven separate red cell systems. The HLA phenotypes indicate that the probability that these men were the fathers of the children was greater than 99.99%.

Adult↗

Anosmia.

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Ethmoid Sinus↗

A case of primary amenorrhea, diabetes and anosmia.

This case details a patient with primary amenorrhea with an unusual cause. She presented at age 16 with short stature, minimal sexual development and no prior menses. Her history was significant for poorly controlled type 1 diabetes. She had been evaluated previously for growth hormone deficiency, and had received a short course of growth hormone therapy. Of greatest significance was the fact that she had also had a decreased sense of smell since her youth. Although a previous computerized tomography scan had been reported as normal, follow-up magnetic resonance imaging demonstrated the absence of olfactory bulbs. Smell testing confirmed the absence of smell and testing of gonadotropin releasing hormone demonstrated an inadequate response. All of these features suggested Kallmann syndrome. This syndrome commonly presents with delayed onset of puberty and decreased or absent sense of smell. There are also many associated features, and the disease is remarkable for its great genotypic and phenotypic variability. Current understanding of its pathogenesis, the commonly associated features of Kallmann syndrome and the impact of diabetes on growth and sexual development are reviewed.

Adolescent↗