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A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl

A disorder of sex development (DSD) is defined as a congenital condition in which development of chromosomal, gonadal, or anatomical sex is atypical. Swyer syndrome is an example of 46,XY DSD with a female phenotype. It usually becomes apparent in adolescence with delayed puberty and amenorrhoea. Sp...

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Autores principales: Morawiecka-Pietrzak, Małgorzata, Dąbrowska, Ewelina, Gliwińska, Aleksandra, Góra, Anna, Geisler, Gabriela, Gawlik, Aneta, Kudela, Grzegorz, Ziora, Katarzyna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2020
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227485/
https://www.ncbi.nlm.nih.gov/pubmed/33599439
http://dx.doi.org/10.5114/pedm.2020.101803
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author Morawiecka-Pietrzak, Małgorzata
Dąbrowska, Ewelina
Gliwińska, Aleksandra
Góra, Anna
Geisler, Gabriela
Gawlik, Aneta
Kudela, Grzegorz
Ziora, Katarzyna
author_facet Morawiecka-Pietrzak, Małgorzata
Dąbrowska, Ewelina
Gliwińska, Aleksandra
Góra, Anna
Geisler, Gabriela
Gawlik, Aneta
Kudela, Grzegorz
Ziora, Katarzyna
author_sort Morawiecka-Pietrzak, Małgorzata
collection PubMed
description A disorder of sex development (DSD) is defined as a congenital condition in which development of chromosomal, gonadal, or anatomical sex is atypical. Swyer syndrome is an example of 46,XY DSD with a female phenotype. It usually becomes apparent in adolescence with delayed puberty and amenorrhoea. Spontaneous breast development is very rare. A 15-year-old girl was presented due to primary amenorrhoea with breast development compatible with Tanner stage V. Hormonal tests revealed hypergonadotropic hypogonadism with low level of oestradiol. Pelvic ultrasound and magnetic resonance imaging revealed a small uterus, and no ovaries were found. In the right lower abdomen, a structure of unknown origin was visible. The chromosome analysis revealed a 46,XY karyotype. The patient was qualified for a laparoscopic bilateral gonadectomy. Postoperative histopathological examination revealed gonadoblastoma. We underline the need to consider DSD 46,XY in the presence of primary amenorrhoea, even when pubertal development is present. Germ cell tumors have a tendency to grow and metastasize rapidly. Delayed diagnosis may increase the risk of malignant transformation and cause a poor diagnosis.
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spelling pubmed-102274852023-06-05 A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl Morawiecka-Pietrzak, Małgorzata Dąbrowska, Ewelina Gliwińska, Aleksandra Góra, Anna Geisler, Gabriela Gawlik, Aneta Kudela, Grzegorz Ziora, Katarzyna Pediatr Endocrinol Diabetes Metab Case report | Opis przypadku A disorder of sex development (DSD) is defined as a congenital condition in which development of chromosomal, gonadal, or anatomical sex is atypical. Swyer syndrome is an example of 46,XY DSD with a female phenotype. It usually becomes apparent in adolescence with delayed puberty and amenorrhoea. Spontaneous breast development is very rare. A 15-year-old girl was presented due to primary amenorrhoea with breast development compatible with Tanner stage V. Hormonal tests revealed hypergonadotropic hypogonadism with low level of oestradiol. Pelvic ultrasound and magnetic resonance imaging revealed a small uterus, and no ovaries were found. In the right lower abdomen, a structure of unknown origin was visible. The chromosome analysis revealed a 46,XY karyotype. The patient was qualified for a laparoscopic bilateral gonadectomy. Postoperative histopathological examination revealed gonadoblastoma. We underline the need to consider DSD 46,XY in the presence of primary amenorrhoea, even when pubertal development is present. Germ cell tumors have a tendency to grow and metastasize rapidly. Delayed diagnosis may increase the risk of malignant transformation and cause a poor diagnosis. Termedia Publishing House 2020-12-17 2021-03 /pmc/articles/PMC10227485/ /pubmed/33599439 http://dx.doi.org/10.5114/pedm.2020.101803 Text en Copyright © Polish Society of Pediatric Endocrinology and Diabetes https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), allowing third parties to download and share its works but not commercially purposes or to create derivative works.
spellingShingle Case report | Opis przypadku
Morawiecka-Pietrzak, Małgorzata
Dąbrowska, Ewelina
Gliwińska, Aleksandra
Góra, Anna
Geisler, Gabriela
Gawlik, Aneta
Kudela, Grzegorz
Ziora, Katarzyna
A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl
title A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl
title_full A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl
title_fullStr A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl
title_full_unstemmed A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl
title_short A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl
title_sort rare case of primary amenorrhoea and breast development in a 46,xy 15-year-old girl
topic Case report | Opis przypadku
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227485/
https://www.ncbi.nlm.nih.gov/pubmed/33599439
http://dx.doi.org/10.5114/pedm.2020.101803
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