Semin Reprod Med 2012; 30(05): 364-373
DOI: 10.1055/s-0032-1324719
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Testicular Anti-Müllerian Hormone: Clinical Applications in DSD

Nathalie Josso
1   INSERM. U782, Université Paris-Sud, Clamart, France
,
Rodolfo Rey
2   Centro de Investigaciones Endocrinológicas (CEDIE-CONICET), Hospital de Niños “R. Gutiérrez,” Buenos Aires, Argentina
3   Departamento de Histología, Embriología, Biología Celular y Genética, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina
,
Jean-Yves Picard
1   INSERM. U782, Université Paris-Sud, Clamart, France
› Author Affiliations
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Publication History

Publication Date:
08 October 2012 (online)

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Abstract

Male fetal sexual differentiation of the genitalia is driven by Leydig cell-secreted androgens and Sertoli cell-secreted anti-Müllerian hormone (AMH). Disorders of sex development (DSD) may be due to abnormal morphogenesis of genital primordia or to defective testicular hormone secretion or action. In dysgenetic DSD, due to an early fetal-onset primary hypogonadism affecting Leydig and Sertoli cells, the fetal gonads are incapable of producing normal levels of androgens and AMH. In non-dysgenetic DSD, either Leydig cells or Sertoli cells are affected but not both. Persistent Müllerian duct syndrome (PMDS) may result from Sertoli cell-specific dysfunction due to mutations in the AMH gene; these patients have Fallopian tubes and uterus, but male external genitalia. In DSD due to insensitivity to testicular hormones, fetal Leydig and Sertoli cell function is normal. Defective androgen action is associated with female or ambiguous genitalia whereas insensitivity to AMH results in PMDS with normal serum AMH. Clinical and biological features of PMDS due to mutations in the genes coding for AMH or the AMH receptor, as well as genetic aspects and clinical management are discussed.