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Mullerian inhibiting factor deficiency

MedGen UID:
543458
•Concept ID:
C0271629
•
Disease or Syndrome
Synonyms: Mullerian Inhibiting Factor Deficiency; Mullerian Inhibiting Substance Deficiency; Mullerian regression factor deficiency; Müllerian Inhibiting Factor Deficiency; Müllerian Inhibiting Substance Deficiency
SNOMED CT: Mullerian inhibiting factor deficiency (66841006); Mullerian regression factor deficiency (66841006)

Definition

A deficiency of the Mullerian inhibiting substance, which is secreted by the Sertoli cells during embryogenesis. It can result in unilateral or bilateral cryptorchidism, testicular regression syndrome and sterility. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMullerian inhibiting factor deficiency

Professional guidelines

PubMed

Serum AMH levels in the differential diagnosis of hyperandrogenemic conditions.
Tuten A, Sahmay S, Oncul M, Acikgoz AS, Imamoglu M, Gurleyen HC, Senturk ML
Eur J Obstet Gynecol Reprod Biol 2014 Jun;177:121-5. Epub 2014 Apr 2 doi: 10.1016/j.ejogrb.2014.03.016. PMID: 24768424
Inhibin B and anti-Müllerian hormone as markers of gonadal function after treatment for medulloblastoma or posterior fossa ependymoma during childhood.
Cuny A, Trivin C, Brailly-Tabard S, Adan L, Zerah M, Sainte-Rose C, Alapetite C, Brugières L, Habrand JL, Doz F, Brauner R
J Pediatr 2011 Jun;158(6):1016-1022.e1. Epub 2010 Dec 18 doi: 10.1016/j.jpeds.2010.11.019. PMID: 21168856
Investigation and initial management of ambiguous genitalia.
Ahmed SF, Rodie M
Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):197-218. doi: 10.1016/j.beem.2009.12.001. PMID: 20541148

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