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Anorchidism [EXCLUSIVE]

Anorchia (also called anorchidism or anorchism) is a disorder of sex development in which a person with XY karyotype, which corresponds to male sex, is born without testes. Within a few weeks of fertilization, the embryo develops rudimentary gonads (testes), which produce hormones responsible for the development of the reproductive system. If the testes fail to develop within eight weeks, the baby will develop female genitalia (see Swyer syndrome). If the testes begin to develop but are lost or cease to function between eight and 10 weeks, the baby will have ambiguous genitalia when it is born. However, if the testes are lost after 14 weeks, the baby will have partial male genitalia with the notable absence of gonads.


Unilateral anorchidism, or monorchidism, refers to the absence of one testis. It is defined as the unilateral or bilateral partial or complete absence of testicular tissue, with or without rudimentary epididymal and spermatic cord remnants, in the presence of internal Wolffian duct development and normal external genitalia. In the case of monorchidism with derivatives of the Wolffian duct an ipsilateral testis must be present at least up to the 16th week of gestation to induce the formation of an epididymal structure. Few studies have been devoted to the etiology of monorchidism or to management of the contralateral solitary testis. With the aid of a personal series of 36 cases and a review of the literature the etiopathology of monorchidism is discussed; the long-term fate of the contralateral testis is considered, and an answer to the question of whether protection of the solitary contralateral testis by orchidopexy is really indicated, as stated by most authors, is offered. Ischemia due to intrauterine torsion is thought to be the cause of monorchidism; it is thus a syndrome of testicular regression. The histopathological findings are characteristic, if not specific, for atrophy secondary to ischemia. Vas deferens, epididymis, calcification or hemosiderin pigmentation is noted in almost 90% of cases. In the absence of these remnants, clinical and surgical findings and the presence of a richly vascular stroma support the diagnosis. According to the author's experience, exploration and fixation of the contralateral testis is neither necessary nor desirable.

Service offered: Helpline advice, information and support for men and boys with congenital or acquired anorchidism (absence of the testes). Help also available for families. Produce a newsletter twice a year. Affiliated to Contact a Family.

  • Diagnosis Index entries containing back-references to Q55.0: Absence (of) (organ or part) (complete or partial) testis (congenital) Q55.0 Agenesis testicle Q55.0 Anorchia, anorchism, anorchidism Q55.0 Aplasia - see also Agenesis testicle Q55.0 Malformation (congenital) - see also Anomaly testis and scrotum Q55.20ICD-10-CM Diagnosis Code Q55.20Unspecified congenital malformations of testis and scrotum2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code Male Dx POA Exempt Applicable ToCongenital malformation of testis or scrotum NOS

aplasia Q55.0 Monorchism, monorchidism Q55.0 041b061a72


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