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Pediatric Endocrinology Diabetes and Metabolism
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1/2021
vol. 27
 
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abstract:
Case report

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

Małgorzata Morawiecka-Pietrzak
1
,
Ewelina Dąbrowska
2
,
Aleksandra Gliwińska
3
,
Anna Góra
2
,
Gabriela Geisler
2
,
Aneta Gawlik
4
,
Grzegorz Kudela
5
,
Katarzyna Ziora
2

  1. Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland
  2. Department of Medical and Molecular Biology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland
  3. Paediatric Nephrology Ward with Dialysis Division for Children, Public Clinical Hospital No. 1 in Zabrze, Poland
  4. Department of Paediatrics and Paediatric Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
  5. Department of Paediatric Surgery and Urology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
Pediatr Endocrinol Diabetes Metab 2021; 27 (1): 62–67
DOI: https://doi.org/10.5114/pedm.2020.101803
Online publish date: 2020/12/17
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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.
keywords:

primary amenorrhoea, gonadal dysgenesis, Swyer syndrome, gonadoblastoma, disorder of sex development

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