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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2014
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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. |
format | Online Article Text |
id | pubmed-4195882 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
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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