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,
Anne Gompel,
Paul Czernichow,
Pierre Chatelain,
Raphaël Rappaport,
Yves Morel and
Nathalie Josso
Unité de Recherches sur l’Endocrinologie du Développement (R.A.R., C.Be., N.J.), INSERM, Ecole Normale Supérieure, 92120 Montrouge, France; Services de Chirurgie Pédiatrique (C.N.-F., S.L.-J.), Endocrinologie Pédiatrique (R.R.), Anatomie Pathologique (F.J.) and Biochimie B (I.M.), Hôpital Necker-Enfants Malades, 75015 Paris, France; Service d’Endocrinologie Pédiatrique (C.Bo., N.J.) and Laboratoire de Biologie Hormonale (N.L.), Hôpital Saint Vincent de Paul, 75014 Paris, France; Service d’Endocrinologie et Diabétologie Pédiatrique (J.L., P.Cz.), Hôpital Robert Debré, 75019 Paris, France; Service d’Explorations Fonctionnelles Endocriniennes (S.C.), Hôpital Armand Trousseau, 75012 Paris, France; Service de Gynécologie-Obstétrique (A.G.), Hôpital Hôtel-Dieu, 75004 Paris, France; Unité de Recherches sur la Pathologie Hormonale Moléculaire, INSERM (L.M.-C., M.G.F., Y.M.), and Service d’Endocrinologie et Diabétologie Infantiles (M.N., P.Ch.), Hôpital Debrousse, 69005 Lyon, France; Service de Pédiatrie (M.D.), Centre Hospitalier Lyon Sud, 69495 Pierre-Bénite, France; Service de Pédiatrie 1 (A.-M.B.), Centre Hospitalier Universitaire, 25030 Besançon, France; Clinique de Pédiatrie (C.L.), Hôpital Charles Nicolle, 76000 Rouen, France; Service de Pédiatrie (S.S.), Hôpital de Hautepierre, 67098 Strasbourg, France; Service de Pédiatrie (H.C.), CHI Poissy - Saint Germain en Laye, 78104 Saint Germain en Laye, France; Institute of Child Health (N.S.) and Department of Pediatric Endocrinology (F.V.), University of Istanbul, 34390 Istanbul, Turkey; Kinderklinik und Poliklinik der Technischen Universität (W.R.), 80804 Munich, Germany; and Unidade de Endocrinologia Genética LIM-25 (S.P.A.T.), Faculdade de Medicina, Universidade de São Paulo, 01266-900 São Paulo, Brazil
Address all correspondence and requests for reprints to: Dr. Rodolfo Rey, Present address for reprint requests: Centro de Investigaciones Endocrinológicas, Hospital de Niños, Gallo 1330, (1425) Buenos Aires, Argentina. E-mail: rodolforey{at}infovia.com.ar
Fetal male sexual differentiation is driven by two testicular hormones: testosterone (synthesized by interstitial Leydig cells) and antimüllerian hormone (AMH; produced by Sertoli cells present in the seminiferous tubules). Intersex states result either from gonadal dysgenesis, in which both Leydig and Sertoli cell populations are affected, or from impaired secretion or action of either testosterone or AMH. Until now, only Leydig cell function has been assessed in children with ambiguous genitalia, by means of testosterone assay.
To determine whether serum AMH would help in the diagnosis of intersex conditions, we assayed serum AMH levels in 107 patients with ambiguous genitalia of various etiologies. In XY patients, AMH was low when the intersex condition was caused by abnormal testicular determination (including pure and partial gonadal dysgenesis) but was normal or elevated in patients with impaired testosterone secretion, whereas serum testosterone was low in both groups. AMH was also elevated during the first year of life and at puberty in intersex states caused by androgen insensitivity. In 46,XX patients with a normal male phenotype or ambiguous genitalia, in whom the diagnosis of female pseudohermaphroditism had been excluded, serum AMH levels higher than 75 pmol/L were indicative of the presence of testicular tissue and correlated with the mass of functional testicular parenchyma.
In conclusion, serum AMH determination is a powerful tool to assess Sertoli cell function in children with intersex states, and it helps to distinguish between defects of male sexual differentiation caused by abnormal testicular determination and those resulting from isolated impairment of testosterone secretion or action.
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