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Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. The management of a newborn with suspected 46,XY DSD remains challenging. Newborns with 46,XY DSD may...

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Autores principales: Bertelloni, Silvano, Tyutyusheva, Nina, Valiani, Margherita, D'Alberton, Franco, Baldinotti, Fulvia, Caligo, Maria Adelaide, Baroncelli, Giampiero I., Peroni, Diego G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100517/
https://www.ncbi.nlm.nih.gov/pubmed/33968844
http://dx.doi.org/10.3389/fped.2021.627281
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author Bertelloni, Silvano
Tyutyusheva, Nina
Valiani, Margherita
D'Alberton, Franco
Baldinotti, Fulvia
Caligo, Maria Adelaide
Baroncelli, Giampiero I.
Peroni, Diego G.
author_facet Bertelloni, Silvano
Tyutyusheva, Nina
Valiani, Margherita
D'Alberton, Franco
Baldinotti, Fulvia
Caligo, Maria Adelaide
Baroncelli, Giampiero I.
Peroni, Diego G.
author_sort Bertelloni, Silvano
collection PubMed
description Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. The management of a newborn with suspected 46,XY DSD remains challenging. Newborns with 46,XY DSD may present with several phenotypes ranging from babies with atypical genitalia or girls with inguinal herniae to boys with micropenis and cryptorchidism. A mismatch between prenatal karyotype and female phenotype is an increasing reason for presentation. Gender assignment should be avoided prior to expert evaluation and possibly until molecular diagnosis. The classic diagnostic approach is time and cost-consuming. Today, a different approach may be considered. The first line of investigations must exclude rare life-threatening diseases related to salt wasting crises. Then, the new genetic tests should be performed, yielding increased diagnostic performance. Focused imaging or endocrine studies should be performed on the basis of genetic results in order to reduce repeated and invasive investigations for a small baby. The challenge for health professionals will lie in integrating specific genetic information with better defined clinical and endocrine phenotypes and in terms of long-term evolution. Such advances will permit optimization of counseling of parents and sex assignment. In this regard, society has significantly changed its attitude to the acceptance and expansion beyond strict binary male and female sexes, at least in some countries or cultures. These management advances should result in better personalized care and better long-term quality of life of babies born with 46,XY DSD.
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spelling pubmed-81005172021-05-07 Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype Bertelloni, Silvano Tyutyusheva, Nina Valiani, Margherita D'Alberton, Franco Baldinotti, Fulvia Caligo, Maria Adelaide Baroncelli, Giampiero I. Peroni, Diego G. Front Pediatr Pediatrics Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. The management of a newborn with suspected 46,XY DSD remains challenging. Newborns with 46,XY DSD may present with several phenotypes ranging from babies with atypical genitalia or girls with inguinal herniae to boys with micropenis and cryptorchidism. A mismatch between prenatal karyotype and female phenotype is an increasing reason for presentation. Gender assignment should be avoided prior to expert evaluation and possibly until molecular diagnosis. The classic diagnostic approach is time and cost-consuming. Today, a different approach may be considered. The first line of investigations must exclude rare life-threatening diseases related to salt wasting crises. Then, the new genetic tests should be performed, yielding increased diagnostic performance. Focused imaging or endocrine studies should be performed on the basis of genetic results in order to reduce repeated and invasive investigations for a small baby. The challenge for health professionals will lie in integrating specific genetic information with better defined clinical and endocrine phenotypes and in terms of long-term evolution. Such advances will permit optimization of counseling of parents and sex assignment. In this regard, society has significantly changed its attitude to the acceptance and expansion beyond strict binary male and female sexes, at least in some countries or cultures. These management advances should result in better personalized care and better long-term quality of life of babies born with 46,XY DSD. Frontiers Media S.A. 2021-04-22 /pmc/articles/PMC8100517/ /pubmed/33968844 http://dx.doi.org/10.3389/fped.2021.627281 Text en Copyright © 2021 Bertelloni, Tyutyusheva, Valiani, D'Alberton, Baldinotti, Caligo, Baroncelli and Peroni. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Bertelloni, Silvano
Tyutyusheva, Nina
Valiani, Margherita
D'Alberton, Franco
Baldinotti, Fulvia
Caligo, Maria Adelaide
Baroncelli, Giampiero I.
Peroni, Diego G.
Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype
title Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype
title_full Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype
title_fullStr Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype
title_full_unstemmed Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype
title_short Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype
title_sort disorders/differences of sex development presenting in the newborn with 46,xy karyotype
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100517/
https://www.ncbi.nlm.nih.gov/pubmed/33968844
http://dx.doi.org/10.3389/fped.2021.627281
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