Deficiencia parcial de 3β-hidroxiesteroide deshidrogenasa tipo 2: diagnóstico de una nueva mutación tras cribado neonatal positivo de deficiencia de 21-hidroxilasa

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

doi:10.1016/j.medcli.2015.04.004

Cited by 2 publications

(1 citation statement)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, a few individuals have survived to puberty, with persisting adrenal insufficiency. Bahíllo-Curieses et al [115] reported a partial deficiency of type 2 3ß-HSD, diagnosing a new mutation after positive screening in newborns for 21-hydroxylase deficiency.…”

Section: Disorders Of Androgen Production (Male Ps or Mad Due To Blocmentioning

confidence: 99%

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

Acién

2020

JCM

View full text Add to dashboard Cite

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.

show abstract

Section: Disorders Of Androgen Production (Male Ps or Mad Due To Blocmentioning

confidence: 99%