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Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic fact...

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Autores principales: Laino, Luigi, Majore, Silvia, Preziosi, Nicoletta, Grammatico, Barbara, De Bernardo, Carmelilia, Scommegna, Salvatore, Rapone, Anna Maria, Marrocco, Giacinto, Bottillo, Irene, Grammatico, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195882/
https://www.ncbi.nlm.nih.gov/pubmed/25248670
http://dx.doi.org/10.1530/EC-14-0085
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author Laino, Luigi
Majore, Silvia
Preziosi, Nicoletta
Grammatico, Barbara
De Bernardo, Carmelilia
Scommegna, Salvatore
Rapone, Anna Maria
Marrocco, Giacinto
Bottillo, Irene
Grammatico, Paola
author_facet Laino, Luigi
Majore, Silvia
Preziosi, Nicoletta
Grammatico, Barbara
De Bernardo, Carmelilia
Scommegna, Salvatore
Rapone, Anna Maria
Marrocco, Giacinto
Bottillo, Irene
Grammatico, Paola
author_sort Laino, Luigi
collection PubMed
description Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic factors. Disorders of sex development (DSD) are all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex. Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients. In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies. In total, we found a genetic variant in 56 out of 88 of them, leading to the clinical classification of every patient, and we outline the different steps required for a coherent genetic testing approach. In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient.
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spelling pubmed-41958822014-10-16 Disorders of sex development: a genetic study of patients in a multidisciplinary clinic Laino, Luigi Majore, Silvia Preziosi, Nicoletta Grammatico, Barbara De Bernardo, Carmelilia Scommegna, Salvatore Rapone, Anna Maria Marrocco, Giacinto Bottillo, Irene Grammatico, Paola Endocr Connect Research Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic factors. Disorders of sex development (DSD) are all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex. Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients. In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies. In total, we found a genetic variant in 56 out of 88 of them, leading to the clinical classification of every patient, and we outline the different steps required for a coherent genetic testing approach. In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient. Bioscientifica Ltd 2014-10-13 /pmc/articles/PMC4195882/ /pubmed/25248670 http://dx.doi.org/10.1530/EC-14-0085 Text en © 2014 The authors http://creativecommons.org/licenses/by/3.0/deed.en_GB This work is licensed under a Creative Commons Attribution 3.0 Unported License (http://creativecommons.org/licenses/by/3.0/deed.en_GB)
spellingShingle Research
Laino, Luigi
Majore, Silvia
Preziosi, Nicoletta
Grammatico, Barbara
De Bernardo, Carmelilia
Scommegna, Salvatore
Rapone, Anna Maria
Marrocco, Giacinto
Bottillo, Irene
Grammatico, Paola
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
title Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
title_full Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
title_fullStr Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
title_full_unstemmed Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
title_short Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
title_sort disorders of sex development: a genetic study of patients in a multidisciplinary clinic
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195882/
https://www.ncbi.nlm.nih.gov/pubmed/25248670
http://dx.doi.org/10.1530/EC-14-0085
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