Congenital Anorchia: Natural History and Treatment

Abstract

This paper discusses the definition, pathogenesis, diagnosis and treatment of congenital anorchia. It concludes that preparations containing esters of testosterone are preferable to synthetic derivatives for long-term treatment as they are metabolized in the same way as endogenous testosterone. In addition, it appears that recommended doses for replacement therapy are lower than previously suggested. An ideal formulation of testosterone for use in androgen replacement therapy is not currently available.

Pubertal induction in hypogonadism: Current approaches including use of gonadotrophins

“…This rare condition with early foetal loss of testes after 8 weeks or later in utero, in an otherwise normal 46 XY male [31], has an absolute need for HRT, commencing at a peer appropriate time, to achieve adult physical appearance and sexual function. A normal range of psychosocial profile in young men with anorchia, compared to a control group of age and education matched men has been reported [32].…”

Human behavioral sex differences: A role for gonadal hormones during early development?

“…Anorchia sometimes is referred to as the vanishing testes syndrome (Wilson & Foster, 1985). In congenital bilateral anorchia, testes are present during prenatal life, at least long enough to direct differentiation of male genitalia, but disappear sometime before birth, probably because of trauma or vascular interruption (Bernasconi, Ghizzoni, Panza, Volta, & Caselli, 1992). Therefore, although it is impossible to ascertain the degree of prenatal normalcy, in this syndrome, the testosterone surge during infancy is completely absent.…”

Perspectives in Pediatric Pathology, Chapter 9. Alterations in the Number and Location of the Testis

“…Any of these conditions may underlie vanishing testis syndrome, but most are due to intrauterine or neonatal testicular torsion. This is supported by (1) the presence of a ductus deferens ending in connective tissue with hemosiderin-laden macrophages and dystrophic calcification [33], and (2) the normal morphology of the contralateral testis, which would be abnormal if the cause were hormonal, as seen in many testes contralateral to a cryptorchid gonad [35].…”

“…Approximately 100 cases have been reported. Patients show male external genitalia with hypoplasia of the penis (microphallus) and scrotum [33]. Internal genitalia consist of the normal wolffian derivatives but no müllerian derivatives are present.…”