Partial 3β-hydroxysteroid dehydrogenase type 2 deficiency: Diagnosis of a novel mutation after positive newborn screening for 21-hydroxylase deficiency

Bahíllo‐Curieses, M. Pilar; Trocóniz, Lourdes Loidi Fernández de; López, A.; Martínez-Sopena, M. J.

doi:10.1016/j.medcle.2015.04.005

Medicina Clínica (English Edition)

2016

DOI: 10.1016/j.medcle.2015.04.005

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Partial 3β-hydroxysteroid dehydrogenase type 2 deficiency: Diagnosis of a novel mutation after positive newborn screening for 21-hydroxylase deficiency

M. Pilar Bahíllo‐Curieses

Lourdes Loidi Fernández de Trocóniz

A. López

et al.

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2020

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Disorders of Sex Development: Classification, Review, and Impact on Fertility

Acién

2020

JCM

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In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and Klinefelter syndrome (dysgenesis and polysomies with a female phenotype; and sex reversal and Klinefelter with a male phenotype). Other infertility situations could also be included here as minor degrees of dysgenesis. Anomalies in sex determination with sex ambiguity should (usually) include testicular dysgenesis and ovotesticular disorders. Among the anomalies in sex differentiation, we include: (1) males with androgen deficiency (MAD) that correspond to those individuals whose karyotype and gonads are male (XY and testes), but the phenotype can be female due to different hormonal abnormalities. (2) females with androgen excess (FAE); these patients have ovaries and a 46,XX karyotype, but present varying degrees of external genital virilization as a result of an enzyme abnormality that affects adrenal steroid biosynthesis and leads to congenital adrenal hyperplasia; less frequently, this can be caused by iatrogenia or tumors. (3) Kallman syndrome. All of these anomalies are reviewed and analyzed herein, as well as related fertility problems.

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Disorders of Sex Development: Classification, Review, and Impact on Fertility

Acién

2020

JCM

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Partial 3β-hydroxysteroid dehydrogenase type 2 deficiency: Diagnosis of a novel mutation after positive newborn screening for 21-hydroxylase deficiency

Cited by 1 publication

References 6 publications

Disorders of Sex Development: Classification, Review, and Impact on Fertility

Disorders of Sex Development: Classification, Review, and Impact on Fertility

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