A Syndrome of Eunuchoidism With Spermatogenesis, Normal Urinary FSH and Low or Normal Icsh: (“Fertile Eunuchs”)*

Abstract

W HETHER androgen deficiency is of the severest grade, as in eunuchism, or of less severe grade, as in eunuchoidism, and whether it is of testicular or of hypophyseal origin, the testes are almost invariably aplastic or atrophic and in consequence distinctly small. To find normalsized testes in an individual who otherwise has all the attributes of a eunuch is an impressive sight and is the key to the syndrome to be described: The finding of normal or nearly normal-sized testes under such circumstances indicates two simple facts: a) that eunuchism is not testicular failure, but androgen deficiency; and b) that testicular mass depends largely on the bulk of the tubules present.Eunuchs and eunuchoids are almost invariably sterile and, so far as we can judge from our experience and that of others, there is seldom spermatogenesis to be demonstrated by testicular biopsy. In the 5 patients described here, there were moderate numbers of spermatozoa in almost all tubules prior to treatment; and in 2 there were normal numbers of sperm in the semen. Hurxthal et al. (1) reported 5 eunuchoid patients treated with testosterone and chorionic gonadotropin, who showed spermatogenesis after treatment. In 3 of his cases the absence of sperm in the semen before

Prevalence, Phenotypic Spectrum, and Modes of Inheritance of Gonadotropin-Releasing Hormone Receptor Mutations in Idiopathic Hypogonadotropic Hypogonadism1

“…Individuals such as patient 5 with hypogonadism but normal sized testes (with or without spermatogenesis) have been termed fertile eunuchs, a phrase originally coined to reflect a primary pituitary deficiency of LH, but normal FSH secretion (33,34). Nowhere is the breadth of phenotypes more dramatic than in two of the male patients described in this study (patients 2 and 5).…”

Gonadotrophin replacement for induction of fertility in hypogonadal men

“…Mono-therapy with hCG is best used to stimulate spermatogenesis in those CHH men with larger testicular size [23, 24,28,57]. This includes those CHH men with some degree of spontaneous testicular development as well as those with the so-called fertile eunuch syndrome [58]. These men exhibit testicular development yet are not virilized and typically have eunuchoidal proportions (armspan exceeding height by >6 cm).…”

Isolated GnRH deficiency: A disease model serving as a unique prism into the systems biology of the GnRH neuronal network

“…In a small percentage of such men, a partial GnRH deficient phenotype can be observed as the “fertile eunuch” variant of this syndrome. These cases, testicular steroidogenesis is nearly completely absent as evidenced by their frankly hypogonadal testosterone levels yet spermatogenesis is somewhat paradoxically preserved (McCullagh, Beck et al 1953; Faiman, Hoffman et al 1968; Makler, Glezerman et al 1977). Similar to their male counterpart, females with IHH subjects can vary from complete absence of puberty with infertility to partial defects often when isolated thelarche or menarche may occur but fail to progress (Shaw, Seminara et al 2011).…”