HETEROGENEITY OF RESPONSE TO LH-RH IN PATIENTS WITH THE SYNDROME OF CONGENITAL ANOSMIA AND HYPOGONADISM

Abstract

The syndrome of congenital anosmia and hypogonadism (“the Kallmann Syndrome”) is part of the differential diagnosis of delayed pubescence in both sexes. To attempt to define the locus of the defect we studied the response of 12 patients (5F,7M) to luteinizing hormone releasing hormone (LH-RH). All patients initially presented with a history of delayed pubescence, had low levels of serum estradiol or testosterone and congenital anosmia, and were unable to detect pure exaltolide or floral. There was no evidence of pituitary tropic hormone deficiency except for gonadotropins.

Synthetic LH-RH (100μg, Ayerst) was administered as a single subcutaneous dose. “Release” was measured as the integral increase over the mean of 3 baseline samples of FSH and LH measured serially during a 6 hour period. Three types of response were observed. Two men showed trivial release (<720 mIU × min) for both LH and FSH. The majority (4M,5F) had release of 1100-8000 for LH and 600-2300 for FSH. One man with spermatogenesis and erythrocyte phenotype-compatible paternity, displayed enhanced LH release of 24,000 (with a basal LH of 38 and peak of 190) but basal FSH (<4), peak FSH (20) and FSH release (2000) were not different from the majority of responders.

These data are compatible with heterogeneity of response to LH-RH in the syndrome of congenital anosmia and hypogonadism.

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