SRY-negative in 46, XX Male Testicular DSD: a case report

Background: The sex determination process requires distinct signaling pathways to generate either testis or ovaries from the same precursor structures, the primordial gonad. Deviations of this signaling mechanism may result in disorders/differences of sex development (DSD). The 46, XX testicular DSD...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Nurin Aisyiyah Listyasari, Ardy Santosa, Achmad Zulfa Juniarto
Formato:	article
Lenguaje:	EN
Publicado:	Diponegoro University 2020
Materias:	disorders of sex development ambiguous genitalia, 46 xx, sry gene Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/631b2236a58047e996f87e3c8bab7982
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:631b2236a58047e996f87e3c8bab7982
record_format	dspace
spelling	oai:doaj.org-article:631b2236a58047e996f87e3c8bab79822021-11-05T16:47:43ZSRY-negative in 46, XX Male Testicular DSD: a case report2503-217810.14710/jbtr.v6i3.9088https://doaj.org/article/631b2236a58047e996f87e3c8bab79822020-12-01T00:00:00Zhttps://ejournal2.undip.ac.id/index.php/jbtr/article/view/9088https://doaj.org/toc/2503-2178Background: The sex determination process requires distinct signaling pathways to generate either testis or ovaries from the same precursor structures, the primordial gonad. Deviations of this signaling mechanism may result in disorders/differences of sex development (DSD). The 46, XX testicular DSD is a rare genetic condition identified by a discrepancy between genetic and phenotypic sex caused sex reversal syndrome. Case Presentation: We describe the case of a 5 years-old 46, XX boy with ambiguous genitalia. On physical examination he had severe hypospadias, bifid scrotum, micropenis and palpable bilateral testes. Cytogenetic analysis of patient reveals a 46, XX karyotype. Hormonal assay showed low level of FSH, LH and Testosterone and there was no evidence of Mullerian structures based on pelvic imaging. The histopathology of gonadal tissue showed a Leydig cell hyperplasia which gives the impression of Sertoli cell nodule. Polymerase chain reaction (PCR) analysis failed to identify the presence of SRY gene, therefore a diagnosis of 46, XX Testicular DSD with SRY-negative was established. Conclusion: This report presents a rare case of SRY-negative 46, XX Testicular DSD in a boy with ambiguous genitalia. A comprehensive management including clinical, cytogenetic and molecular analyses have indicated that undiscovered genetic or environmental factors needs to be elucidated. It is important to carry out further molecular testing to establish precise diagnosis of DSD and to provide appropriate genetic counseling for patients and their family.Nurin Aisyiyah ListyasariArdy SantosaAchmad Zulfa JuniartoDiponegoro Universityarticledisorders of sex developmentambiguous genitalia,46 xx,sry geneMedicine (General)R5-920ENJournal of Biomedicine and Translational Research, Vol 6, Iss 3, Pp 97-100 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	disorders of sex development ambiguous genitalia, 46 xx, sry gene Medicine (General) R5-920
spellingShingle	disorders of sex development ambiguous genitalia, 46 xx, sry gene Medicine (General) R5-920 Nurin Aisyiyah Listyasari Ardy Santosa Achmad Zulfa Juniarto SRY-negative in 46, XX Male Testicular DSD: a case report
description	Background: The sex determination process requires distinct signaling pathways to generate either testis or ovaries from the same precursor structures, the primordial gonad. Deviations of this signaling mechanism may result in disorders/differences of sex development (DSD). The 46, XX testicular DSD is a rare genetic condition identified by a discrepancy between genetic and phenotypic sex caused sex reversal syndrome. Case Presentation: We describe the case of a 5 years-old 46, XX boy with ambiguous genitalia. On physical examination he had severe hypospadias, bifid scrotum, micropenis and palpable bilateral testes. Cytogenetic analysis of patient reveals a 46, XX karyotype. Hormonal assay showed low level of FSH, LH and Testosterone and there was no evidence of Mullerian structures based on pelvic imaging. The histopathology of gonadal tissue showed a Leydig cell hyperplasia which gives the impression of Sertoli cell nodule. Polymerase chain reaction (PCR) analysis failed to identify the presence of SRY gene, therefore a diagnosis of 46, XX Testicular DSD with SRY-negative was established. Conclusion: This report presents a rare case of SRY-negative 46, XX Testicular DSD in a boy with ambiguous genitalia. A comprehensive management including clinical, cytogenetic and molecular analyses have indicated that undiscovered genetic or environmental factors needs to be elucidated. It is important to carry out further molecular testing to establish precise diagnosis of DSD and to provide appropriate genetic counseling for patients and their family.
format	article
author	Nurin Aisyiyah Listyasari Ardy Santosa Achmad Zulfa Juniarto
author_facet	Nurin Aisyiyah Listyasari Ardy Santosa Achmad Zulfa Juniarto
author_sort	Nurin Aisyiyah Listyasari
title	SRY-negative in 46, XX Male Testicular DSD: a case report
title_short	SRY-negative in 46, XX Male Testicular DSD: a case report
title_full	SRY-negative in 46, XX Male Testicular DSD: a case report
title_fullStr	SRY-negative in 46, XX Male Testicular DSD: a case report
title_full_unstemmed	SRY-negative in 46, XX Male Testicular DSD: a case report
title_sort	sry-negative in 46, xx male testicular dsd: a case report
publisher	Diponegoro University
publishDate	2020
url	https://doaj.org/article/631b2236a58047e996f87e3c8bab7982
work_keys_str_mv	AT nurinaisyiyahlistyasari srynegativein46xxmaletesticulardsdacasereport AT ardysantosa srynegativein46xxmaletesticulardsdacasereport AT achmadzulfajuniarto srynegativein46xxmaletesticulardsdacasereport
_version_	1718444104785854464

SRY-negative in 46, XX Male Testicular DSD: a case report

Ejemplares similares