Male Pseudohermaphroditism Secondary to an Abnormality in Leydig Cell Differentiation*

Abstract

We present the first case of a prepubertal male with an abnormality in Leydig cell differentiation resulting in male pseudohermaphroditism. There was no plasma androgen response to im administration of hCG. Leydig cells were not apparently by either light or electron microscopy in tissue obtained from a biopsy of the right testis 96 h after the last dose of hCG. In addition, LH-hCG saturation analyses performed on membrane preparations from the testicular tissue revealed no binding. An expanded classification for male pseudohermaphroditism is presented.

Familial Leydig Cell Hypoplasia as a Cause of Male Pseudohermaphroditism

“…The status of LCH was best evi denced microscopically by the demonstra tion of marked reduction of the Leydig cell number. Seminiferous tubules in our 2 sibs, like the previously described LCH patients [2][3][4], contained apparently nor mal Sertoli cells and spermatogonia. However other causes of MPH had to be ruled out.…”

46,XY disorders of sex development (DSD)

“…described the first patients with Leydig cell hypoplasia and subsequently other cases have been reported. [28][29][30][31][32][33] The study of 8 of our cases and review of the literature allowed us to delineate the characteristics of 46,XY DSD due to the complete form of Leydig cell hypoplasia as: (i) female external genitalia leading to female sex assignment (ii) no development of sexual characteristics at puberty, (iii) undescended testes slightly smaller than normal with relatively preserved seminiferous tubules and absence of mature Leydig cells (iv) presence of rudimentary epidydimis and vas deferens and absence of uterus and fallopian tubes, (v) low testosterone levels despite elevated gonadotrophin levels, with elevated LH levels predominant over FSH levels, (vi) testicular unresponsiveness to hCG stimulation, and (vii) no abnormal step up in testosterone biosynthesis precursors. [33][34][35][36] Several different mutations in the LH receptor gene were reported in patients with Leydig cell hypoplasia.…”

A new male pseudohermaphrodite rat mutant with androgen deficiency

“…Male pseudohermaphroditism with androgen deficiency in testes can result from a defect of steroid biosynthetic enzymes (Conte & Grumbach, 1979;Peterson & Imperato-McGinley, 1984), gonadotrophic unresponsiveness of Leydig cells (Bardin et al, 1973;Perez-Palacios et ai, 1981, and hypoplasia (Brown et al, 1978;Lee et al, 1982), agenesis (Berthezene et al, 1976) or abnormal differentiation (Schwartz et al, 1981) of Leydig cells. Defects of steroid biosynthetic enzymes are probably unlikely, since lipid adrenal hyperplasia which is usually seen in defects of 20-22-desmolase, 17ct-hydroxysteroid dehydrogenase, and A5-3ß-hydroxysteroid dehydrogenase (Conte & Grumbach, 1979;Peterson & Imperato-McGinley, 1984) and Leydig cell hyperplasia usually seen in defects of 17-20-desmolase and 17ß-hydroxysteroid dehydrogenase (Goebelsmann et ai, 1973;Forest et ai, 1980) were not seen in the mutant rat.…”