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Federación Mexicana de Ginecología y Obstetricia, A.C.

2021, Number 02

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Ginecol Obstet Mex 2021; 89 (02)

46 XX male syndrome. A case report

Téllez-Velasco S, Salazar-López Ortiz CG, Flores-Soto OE, Cuapio-Padilla P, Salazar-Trujillo JC

Language: Spanish
References: 15
Page: 176-181
PDF size: 233.23 Kb.


ABSTRACT

Background: The 46 XX male syndrome or De la Chapelle syndrome is a rare cause of azoospermia with an incidence of 1 case per 20,000 live male births. It is a disorder of sexual differentiation in which the phenotype and chromosomal sex do not correspond, so it is not a common cause of suspected azoospermia.
Clinical case: A 37-year-old female patient with fertility desire, who was found to have azoospermia on two measurements during clinical examination. Physical examination showed bilateral testicular atrophy, with frontotemporal alopecia. The testicular ultrasound reported bilateral atrophy and the hormonal profile: hypergonadotrophic hypogonadism. Diagnosis: azoospermia of non-obstructive cause. The cytogenetic study reported karyotype 46XX in peripheral blood and loss of the SRY gene in the in situ hybridization study, which established the diagnosis of Chapelle syndrome.
Conclusions: This syndrome has a low incidence so thinking of it as a cause of nonobstructive azoospermia requires basic knowledge and integration of the study algorithm.


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