Testis & epididymis
Development
Male pseudohermaphroditism
Author: Turki Al-Hussain, M.D.
Topic Completed: 1 September 2012
Minor changes: 12 April 2021
Copyright: 2002-2021, PathologyOutlines.com, Inc.
PubMed Search: Male pseudohermaphroditism [title}
Table of Contents
Male pseudohermaphroditism | Congenital adrenal hyperplasia | Dysgenetic male pseudohermaphroditism | Persistent Müllerian ductCite this page: Al-Hussain T. Male pseudohermaphroditism. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/testismalepseudo.html. Accessed April 14th, 2021.
Male pseudohermaphroditism
- XY, testes present, phenotype ambiguous or female
Congenital adrenal hyperplasia
- Autosomal recessive, due to various enzymatic defects that cause different patterns of synthesis of glucocortical, mineralocorticoid and sex hormone synthesis
- Genetic males have cryptorchidism, viable Wolffian duct structures, female or ambiguous genitalia, no Müllerian duct structures
- Testes resemble cryptorchid testes
- May have bilateral Leydig cell hyperplasia with deficiencies of 21-hydroxylase, 11β hydroxylase, 17α hydroxylase, 3β hydroxysteroid dehydrogenase
- Treat with corticosteroids or surgical excision of testes
Dysgenetic male pseudohermaphroditism
- Bilateral dysgenetic testis, Müllerian structures, cryptorchidism, inadequate virilization
- May be XO / XY mosaics
- Infertile, no spermatogenesis
- 30% incidence of testicular tumors (J Urol 1978;119:525)
Persistent Müllerian duct
- Rare form of male pseudohermaphroditism, Müllerian duct structures persist due to lack of AMH effect due to either mutation in AMH gene on chromosome 19p13.3 or abnormality of receptor gene on chromosome 12q13
- X linked or autosomal recessive
- Phenotypic male, normal external genitalia, unilateral or bilateral cryptorchidism, may have empty hemiscrotum, normal Wolffian duct derivatives; however also have Müllerian duct derivatives (uterus and usually 2 fallopian tubes) within an inguinal hernia
- 2 forms:
- Unilateral cryptorchidism and contralateral hernia
- Bilateral cryptorchidism, uterus in pelvis, both testes embedded in broad ligament
- 15% risk of germ cell tumors, including intratubular germ cell neoplasia
Case reports
- 67 year old man with clear cell adenocarcinoma in uterus (Am J Surg Pathol 2002;26:1231)
- Choriocarcinoma with teratoma arising from intra-abdominal testis (Lancet Oncol 2004;5:51)
Differential diagnosis
- Mixed gonadal dysgenesis:
- No persistent Müllerian duct structures
