46,XY Karyotype in a Female Phenotype Fetus: A Challenging Diagnosis

Gianni Russo; Alessandra di Lascio; Matilde Ferrario; Silvia Meroni; Olaf Hiort; Giuseppe Chiumello

doi:10.1016/j.jpag.2012.03.001

46,XY Karyotype in a Female Phenotype Fetus: A Challenging Diagnosis

Gianni Russo^*, Alessandra di Lascio, Matilde Ferrario, Silvia Meroni, Olaf Hiort, Giuseppe Chiumello

^*Corresponding author for this work

Department of Pediatric and Adolescent Medicine

6 Citations (Scopus)

Abstract

Background: The growing use of prenatal investigations allows an early detection of several inborn disorders, including disorders of sexual development. The management of these conditions is an arising problem. Case: 46,XY karyotype and female phenotype were detected in a fetus; 5α-reductase and androgen receptor gene analysis on chorionic villi revealed no relevant mutation. The newborn was assigned to female sex. The diagnosis of 17β-hydroxysteroid dehydrogenase-3 β-OL deficiency was reached at four months of age, by means of a low testosterone/Δ 4-androstenedione ratio after HCG test and HSD17B3 gene analysis. Summary and Conclusion: A 46,XY fetus with female external genitalia suggests different conditions, some very rare. Specific genetic investigations should be performed prenatally when possible. A complete evaluation is mandatory after delivery to reach a correct diagnosis.

Original language	English
Journal	Journal of Pediatric and Adolescent Gynecology
Volume	25
Issue number	3
Pages (from-to)	e77-e79
ISSN	1083-3188
DOIs	https://doi.org/10.1016/j.jpag.2012.03.001
Publication status	Published - 06.2012

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 5 Gender Equality
SDG 10 Reduced Inequalities

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

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10.1016/j.jpag.2012.03.001

Cite this

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title = "46,XY Karyotype in a Female Phenotype Fetus: A Challenging Diagnosis",

abstract = "Background: The growing use of prenatal investigations allows an early detection of several inborn disorders, including disorders of sexual development. The management of these conditions is an arising problem. Case: 46,XY karyotype and female phenotype were detected in a fetus; 5α-reductase and androgen receptor gene analysis on chorionic villi revealed no relevant mutation. The newborn was assigned to female sex. The diagnosis of 17β-hydroxysteroid dehydrogenase-3 β-OL deficiency was reached at four months of age, by means of a low testosterone/Δ 4-androstenedione ratio after HCG test and HSD17B3 gene analysis. Summary and Conclusion: A 46,XY fetus with female external genitalia suggests different conditions, some very rare. Specific genetic investigations should be performed prenatally when possible. A complete evaluation is mandatory after delivery to reach a correct diagnosis.",

author = "Gianni Russo and \{di Lascio\}, Alessandra and Matilde Ferrario and Silvia Meroni and Olaf Hiort and Giuseppe Chiumello",

year = "2012",

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doi = "10.1016/j.jpag.2012.03.001",

language = "English",

volume = "25",

pages = "e77--e79",

journal = "Journal of Pediatric and Adolescent Gynecology",

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TY - JOUR

T1 - 46,XY Karyotype in a Female Phenotype Fetus: A Challenging Diagnosis

AU - Russo, Gianni

AU - di Lascio, Alessandra

AU - Ferrario, Matilde

AU - Meroni, Silvia

AU - Hiort, Olaf

AU - Chiumello, Giuseppe

PY - 2012/6

Y1 - 2012/6

N2 - Background: The growing use of prenatal investigations allows an early detection of several inborn disorders, including disorders of sexual development. The management of these conditions is an arising problem. Case: 46,XY karyotype and female phenotype were detected in a fetus; 5α-reductase and androgen receptor gene analysis on chorionic villi revealed no relevant mutation. The newborn was assigned to female sex. The diagnosis of 17β-hydroxysteroid dehydrogenase-3 β-OL deficiency was reached at four months of age, by means of a low testosterone/Δ 4-androstenedione ratio after HCG test and HSD17B3 gene analysis. Summary and Conclusion: A 46,XY fetus with female external genitalia suggests different conditions, some very rare. Specific genetic investigations should be performed prenatally when possible. A complete evaluation is mandatory after delivery to reach a correct diagnosis.

AB - Background: The growing use of prenatal investigations allows an early detection of several inborn disorders, including disorders of sexual development. The management of these conditions is an arising problem. Case: 46,XY karyotype and female phenotype were detected in a fetus; 5α-reductase and androgen receptor gene analysis on chorionic villi revealed no relevant mutation. The newborn was assigned to female sex. The diagnosis of 17β-hydroxysteroid dehydrogenase-3 β-OL deficiency was reached at four months of age, by means of a low testosterone/Δ 4-androstenedione ratio after HCG test and HSD17B3 gene analysis. Summary and Conclusion: A 46,XY fetus with female external genitalia suggests different conditions, some very rare. Specific genetic investigations should be performed prenatally when possible. A complete evaluation is mandatory after delivery to reach a correct diagnosis.

UR - https://www.scopus.com/pages/publications/84860795738

U2 - 10.1016/j.jpag.2012.03.001

DO - 10.1016/j.jpag.2012.03.001

M3 - Journal articles

C2 - 22578489

AN - SCOPUS:84860795738

SN - 1083-3188

VL - 25

SP - e77-e79

JO - Journal of Pediatric and Adolescent Gynecology

JF - Journal of Pediatric and Adolescent Gynecology

IS - 3

ER -

46,XY Karyotype in a Female Phenotype Fetus: A Challenging Diagnosis

Abstract

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