Cargando…

A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia

Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD. Sex chromosome disorders, including sex chromosome mosaicism, are the second most common cause of DSD. We discuss a medic...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Lei, Cooley, Linda D., Chandratre, Sonal R., Ahmed, Atif, Jacobson, Jill D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819822/
https://www.ncbi.nlm.nih.gov/pubmed/24251047
http://dx.doi.org/10.1155/2013/747898
_version_ 1782290042223329280
author Zhang, Lei
Cooley, Linda D.
Chandratre, Sonal R.
Ahmed, Atif
Jacobson, Jill D.
author_facet Zhang, Lei
Cooley, Linda D.
Chandratre, Sonal R.
Ahmed, Atif
Jacobson, Jill D.
author_sort Zhang, Lei
collection PubMed
description Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD. Sex chromosome disorders, including sex chromosome mosaicism, are the second most common cause of DSD. We discuss a medically complex neonate with DSD presenting with ambiguous genitalia. Hormone levels suggested 21-hydroxylase deficiency. Molecular analysis revealed compound heterozygous mutations in the 21-hydroxylase gene (CYP21A2), confirming the diagnosis of CAH. Chromosome analysis revealed sex chromosome mosaicism with three cell lines: 45,X[8]/45,X,tas(Y;16)(p11.32;p13.3)[8]/45,X,t(Y;8)(p11.32;p23.3)[4] with the Y chromosome in telomere association with chromosomes 8p and 16p in different cell lines, a “jumping translocation.” Histologically, the right gonad had irregular, distended seminiferous tubules with hyperplastic germ cells contiguous with ovarian stroma and primordial follicles. The left gonad had scant ovarian stroma and embryonic remnants. Chromosome analyses showed mosaicism in both gonads: 45,X[17]/45,X,tas(Y;8)(p11.32;p23.3)[3]. This is the first case of coexisting CAH and 45,X/46,XY mosaicism reported in the English literature and the third case of a constitutional chromosome Y “jumping translocation.” Our report documents the medical and genetic complexity of children such as this one with ambiguous genitalia and discusses the need for a multidisciplinary team approach.
format Online
Article
Text
id pubmed-3819822
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher Hindawi Publishing Corporation
record_format MEDLINE/PubMed
spelling pubmed-38198222013-11-18 A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia Zhang, Lei Cooley, Linda D. Chandratre, Sonal R. Ahmed, Atif Jacobson, Jill D. Case Rep Endocrinol Case Report Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD. Sex chromosome disorders, including sex chromosome mosaicism, are the second most common cause of DSD. We discuss a medically complex neonate with DSD presenting with ambiguous genitalia. Hormone levels suggested 21-hydroxylase deficiency. Molecular analysis revealed compound heterozygous mutations in the 21-hydroxylase gene (CYP21A2), confirming the diagnosis of CAH. Chromosome analysis revealed sex chromosome mosaicism with three cell lines: 45,X[8]/45,X,tas(Y;16)(p11.32;p13.3)[8]/45,X,t(Y;8)(p11.32;p23.3)[4] with the Y chromosome in telomere association with chromosomes 8p and 16p in different cell lines, a “jumping translocation.” Histologically, the right gonad had irregular, distended seminiferous tubules with hyperplastic germ cells contiguous with ovarian stroma and primordial follicles. The left gonad had scant ovarian stroma and embryonic remnants. Chromosome analyses showed mosaicism in both gonads: 45,X[17]/45,X,tas(Y;8)(p11.32;p23.3)[3]. This is the first case of coexisting CAH and 45,X/46,XY mosaicism reported in the English literature and the third case of a constitutional chromosome Y “jumping translocation.” Our report documents the medical and genetic complexity of children such as this one with ambiguous genitalia and discusses the need for a multidisciplinary team approach. Hindawi Publishing Corporation 2013 2013-10-22 /pmc/articles/PMC3819822/ /pubmed/24251047 http://dx.doi.org/10.1155/2013/747898 Text en Copyright © 2013 Lei Zhang et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Zhang, Lei
Cooley, Linda D.
Chandratre, Sonal R.
Ahmed, Atif
Jacobson, Jill D.
A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
title A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
title_full A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
title_fullStr A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
title_full_unstemmed A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
title_short A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
title_sort newborn with genital ambiguity, 45,x/46,xy mosaicism, a jumping chromosome y, and congenital adrenal hyperplasia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819822/
https://www.ncbi.nlm.nih.gov/pubmed/24251047
http://dx.doi.org/10.1155/2013/747898
work_keys_str_mv AT zhanglei anewbornwithgenitalambiguity45x46xymosaicismajumpingchromosomeyandcongenitaladrenalhyperplasia
AT cooleylindad anewbornwithgenitalambiguity45x46xymosaicismajumpingchromosomeyandcongenitaladrenalhyperplasia
AT chandratresonalr anewbornwithgenitalambiguity45x46xymosaicismajumpingchromosomeyandcongenitaladrenalhyperplasia
AT ahmedatif anewbornwithgenitalambiguity45x46xymosaicismajumpingchromosomeyandcongenitaladrenalhyperplasia
AT jacobsonjilld anewbornwithgenitalambiguity45x46xymosaicismajumpingchromosomeyandcongenitaladrenalhyperplasia
AT zhanglei newbornwithgenitalambiguity45x46xymosaicismajumpingchromosomeyandcongenitaladrenalhyperplasia
AT cooleylindad newbornwithgenitalambiguity45x46xymosaicismajumpingchromosomeyandcongenitaladrenalhyperplasia
AT chandratresonalr newbornwithgenitalambiguity45x46xymosaicismajumpingchromosomeyandcongenitaladrenalhyperplasia
AT ahmedatif newbornwithgenitalambiguity45x46xymosaicismajumpingchromosomeyandcongenitaladrenalhyperplasia
AT jacobsonjilld newbornwithgenitalambiguity45x46xymosaicismajumpingchromosomeyandcongenitaladrenalhyperplasia