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Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene
Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliterom...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280327/ https://www.ncbi.nlm.nih.gov/pubmed/29553041 http://dx.doi.org/10.4274/jcrpe.0011 |
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author | Unal, Edip Yıldırım, Ruken Taş, Funda Feryal Demir, Vasfiye Onay, Hüseyin Haspolat, Yusuf Kenan |
author_facet | Unal, Edip Yıldırım, Ruken Taş, Funda Feryal Demir, Vasfiye Onay, Hüseyin Haspolat, Yusuf Kenan |
author_sort | Unal, Edip |
collection | PubMed |
description | Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased concentration of androgens. A 19 months old girl patient was assessed due to presence of ambiguous genitalia. There were findings of maternal virilization during pregnancy. The karyotype was 46,XX. Congenital adrenal hyperplasia was not considered since adrenocorticotropic hormone, cortisol, and 17-hydroxyprogesterone levels were within normal ranges. At age two months, follicle-stimulating hormone and total testosterone levels were elevated and estradiol level was low. Based on these findings, aromatase deficiency was suspected. A novel homozygous mutation IVS7-2A>G (c.744-2A>G) was identified in the CYP19A1 gene. Pelvic ultrasound showed hypoplasic ovaries rather than large and cystic ovaries. We identified a novel mutation in the CYP19A1 gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy. Presence of large and cystic ovaries is not essential in aromatase deficiency. |
format | Online Article Text |
id | pubmed-6280327 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Galenos Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-62803272018-12-06 Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene Unal, Edip Yıldırım, Ruken Taş, Funda Feryal Demir, Vasfiye Onay, Hüseyin Haspolat, Yusuf Kenan J Clin Res Pediatr Endocrinol Case Report Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased concentration of androgens. A 19 months old girl patient was assessed due to presence of ambiguous genitalia. There were findings of maternal virilization during pregnancy. The karyotype was 46,XX. Congenital adrenal hyperplasia was not considered since adrenocorticotropic hormone, cortisol, and 17-hydroxyprogesterone levels were within normal ranges. At age two months, follicle-stimulating hormone and total testosterone levels were elevated and estradiol level was low. Based on these findings, aromatase deficiency was suspected. A novel homozygous mutation IVS7-2A>G (c.744-2A>G) was identified in the CYP19A1 gene. Pelvic ultrasound showed hypoplasic ovaries rather than large and cystic ovaries. We identified a novel mutation in the CYP19A1 gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy. Presence of large and cystic ovaries is not essential in aromatase deficiency. Galenos Publishing 2018-12 2018-11-29 /pmc/articles/PMC6280327/ /pubmed/29553041 http://dx.doi.org/10.4274/jcrpe.0011 Text en © Copyright 2018, Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of 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 Unal, Edip Yıldırım, Ruken Taş, Funda Feryal Demir, Vasfiye Onay, Hüseyin Haspolat, Yusuf Kenan Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene |
title | Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene |
title_full | Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene |
title_fullStr | Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene |
title_full_unstemmed | Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene |
title_short | Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene |
title_sort | aromatase deficiency due to a novel mutation in cyp19a1 gene |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280327/ https://www.ncbi.nlm.nih.gov/pubmed/29553041 http://dx.doi.org/10.4274/jcrpe.0011 |
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