Biology and Genetics of Anti-Müllerian Hormone

Josso, Nathalie

doi:10.1007/978-1-4419-8002-1_18

Cited by 4 publications

(4 citation statements)

References 12 publications

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“…). An alternative plausible hypothesis is the presence of a mutation of the MIS type II receptors, an autosomal recessive condition in humans that inhibits regression of the Mullerian duct (Josso ).…”

Section: Discussionmentioning

confidence: 99%

“…The histology of the testicles showed hyperplasia of the Leydig cells (white arrow) and vacuolated Sertoli cells (black arrow) with an absence of germinal line cells in the tubular lumen e50 AP Del Carro, E Rosset, A Josson-Schramme, V Lambert and S Buff hypothesis is the presence of a mutation of the MIS type II receptors, an autosomal recessive condition in humans that inhibits regression of the Mullerian duct(Josso 2011). …”

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confidence: 99%

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First Description of Scrotal Testicles in a Dog Affected by 78, XX Testicular Disorder of Sex Development

Carro

Rosset

Josson-Schramme

et al. 2014

Reprod Domestic Animals

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An eight-month-old female dog presented with ambiguous external genitalia. A thorough clinical examination together with various imaging techniques and a histology examination showed the presence of two testicles linked to both the Mullerian and Wolffian ducts. The discovery of the 78,XX SRY-negative karyotype led to the diagnosis of incoherence between the chromosomal and gonadal sex, which is typical for a 78,XX testicular disorder of sex development. Our case was unique because the testicles were still located in their normal scrotal position, whereas the literature contains reports of the presence of cryptorchid testicles in this karyotype setting. To our knowledge, this is the first case that describes an SRY-negative 78,XX testicular disorder of sex development with bilateral scrotal testicles.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

First Description of Scrotal Testicles in a Dog Affected by 78, XX Testicular Disorder of Sex Development

Carro

Rosset

Josson-Schramme

et al. 2014

Reprod Domestic Animals

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“…External male genitalia development is largely under the control of dihydrotestosterone (DHT). 2 In males, failure to produce functional AMH or a defective type II AMH receptor (AMHRII) leads to failure of Mullerian duct regression. 3 The Mullerian structures thus develop into uterus, upper vagina, and fallopian tubes in a 46XY male with normal male external genitalia, leading to PMDS.…”

Section: Discussionmentioning

confidence: 99%

“…However, homozygous human females are normal and fertile at least in early reproductive life. 2 Clinically, PMDS is most commonly diagnosed as an incidental finding during an operation, but the presence of unilateral or bilateral undescended testes may increase clinical suspicion. [7][8][9][10][11] Imaging modalities for the diagnosis of PMDS have thus far proven unreliable.…”

Section: Discussionmentioning

confidence: 99%

Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review

Ahdoot

Qadan

Santa-María

et al. 2013

CUAJ

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A 32-year-old male presenting with a direct inguinal hernia was found to have uterine tissue extending through the inguinal canal, warranting a diagnosis of persistent Mullerian duct syndrome (PMDS). PMDS is an extremely rare form of internal male pseudohermaphroditism in which female internal sex organs, including the uterus, cervix and proximal vagina, persist in a 46XY male with normal external genitalia. The condition results from a congenital insensitivity to anti-Mullerian hormone, or lack of anti-Mullerian hormone, leading to persistence of the female internal sex organs in a male. Clinically, this condition is associated with cryptochoridism. Controversy persists regarding the appropriate treatment of PMDS, since resection of the remnant structures is associated with potential morbidity, but retention risks development of occasional malignancies. We review the literature and discuss various aspects of pathophysiology, diagnosis, and management of PMDS.

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Disorders of the Gonads, Genital Tract, and Genitalia

Simpson

2013

Emery and Rimoin's Principles and Practice of Medical Genetics

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Biology and Genetics of Anti-Müllerian Hormone

Cited by 4 publications

References 12 publications

First Description of Scrotal Testicles in a Dog Affected by 78, XX Testicular Disorder of Sex Development

First Description of Scrotal Testicles in a Dog Affected by 78, XX Testicular Disorder of Sex Development

Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review

Disorders of the Gonads, Genital Tract, and Genitalia

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