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Devant cet impuberisme quels sont vos diagnostics?

Differential diagnoses of delayed puberty

Andrologie volume 17, pages 179–182 (2007)Cite this article

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Les auteurs rapportent un tableau clinique atypique, celui d’un patient présentant un désordre du développement sexuel (46XY DDS). L’exploration a montré des taux de FSH et LH élevés, une testostéronémie basse, avec absence de gonades ainsi que tout dérivé des canaux de Müller et de Wolff à la laparoscopie.

Les auteurs discutent les différentes possibilités diagnostiques pouvant correspondre à ce tableau clinique et insistent sur celui de syndrome de régression testiculaire embryonnaire, entité rare et originale.

Abstract

The authors report a case of a 16-year-old Tunisian phenotypically female patient with an 46, XY karyotype. Serum assays showed high serum FSH and LH levels and low serum testosterone levels. Laparoscopic exploration was performed to distinguish between testicular feminization syndrome and gonadal dysgenesis. No gonads and no persistent Müllerian or Wolffian ducts were found.

The authors suspected the diagnosis of embryonic testicular regression syndrome (TRS), a congenital condition in which the testes disappear during early embryonic development. A spectrum of pathological findings may be present, but few systematic descriptions have been reported in the literature.

The authors describe a new case of suspected embryonic testicular regression syndrome and discuss the differential diagnoses.

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Authors and Affiliations

  1. Service de Gynécologie Obstétrique, CHU Fattouma Bourguiba, Monastir, Tunisie

    Walid Denguezli, Zina Chouket, Raja Faleh, Anis Haddad, Zahra Saidani, Hayet Laajili & Mohamed Sakouhi

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  1. Walid Denguezli
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  2. Zina Chouket
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  4. Anis Haddad
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  7. Mohamed Sakouhi
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Correspondence to Walid Denguezli.

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Denguezli, W., Chouket, Z., Faleh, R. et al. Devant cet impuberisme quels sont vos diagnostics?. Androl. 17, 179–182 (2007). https://doi.org/10.1007/BF03041173

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Basic and Clinical Andrology

ISSN: 2051-4190