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Physiology of Male Gonadotropic Axis and Disorders of Sex Development

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Testosterone

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Abstract

The hypothalamic-pituitary-testicular axis is activated at the third trimester of intrauterine life and in the neonatal period. Fetus testes differentiate by the end of the fifth embryonic weeks, before the gonadotrophs are functionally active. Therefore, GnRH deficiency does not affect male sexual differentiation.

The 46,XY DSD are characterized by atypical or female external genitalia, caused by incomplete intrauterine masculinization, in the presence or absence of Müllerian structures. 46,XY DSD result from decreased production of testosterone, decreased conversion of testosterone into DHT or from impairment of their peripheral action. At histological analysis, testicular tissue in 46,XY DSD patients can be absent, partially or completely dysgenetic, or almost normal. Taking in account testosterone levels, the etiology of the 46,XY DSD can be classified into two large groups: low testosterone secretion and normal or high testosterone secretion.

The majority of DSD patients present atypical genitalia and their sex assignment may be a complex procedure. The choice of male sex-of rearing in 46,XY babies with atypical genitalia is a challenge situation. The participation of a multidisciplinary team is essential in this process and the fast identification of a molecular defect causative of the disorder might collaborate in this decision.

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Authors and Affiliations

  1. Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM/42), Medical School, University of São Paulo, São Paulo, Brazil

    Berenice Bilharinho Mendonca

  2. Developmental Endocrinology Unit, Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM/42), Medical School, University of São Paulo, São Paulo, Brazil

    Elaine Maria Frade Costa

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  1. Berenice Bilharinho Mendonca
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Correspondence to Berenice Bilharinho Mendonca .

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  1. Department of Internal Medicine - Division of Endocrinology and Metabolism, Universidade Federal de Santa Catarina, Florianopolis, Santa Catarina, Brazil

    Alexandre Hohl

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Mendonca, B.B., Costa, E.M.F. (2023). Physiology of Male Gonadotropic Axis and Disorders of Sex Development. In: Hohl, A. (eds) Testosterone. Springer, Cham. https://doi.org/10.1007/978-3-031-31501-5_3

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