Professional paper

https://doi.org/10.13112/PC.2018.12

Prophylactic gonadectomy in children with mixed gonadal dysgenesis – a nine-year-old girl

Anko Antabak orcid.org/0000-0002-6139-7799 ; KBC Zagreb
Andrea Blažević
Dino Papeš
Krešimir Bulić
Marko Bogović

Abstract

Gonadal dysgenesis is an embryonal disorder of the gonads. It can be pure (Turner’s syndrome) or mixed (mosaicism). The mixed
form, which also has Y chromosome, is prone to the occurrence of gonadoblastomas in dysplastic gonads. In such children, it is
indicated to make prophylactic bilateral gonadectomy before malignant transformation. Therefore, early diagnosis of mixed
gonadal dysgenesis is important. However, children with gonadal dysgenesis have variable phenotype. In rare cases, these children
cannot be distinguished phenotypically at the pre-pubertal age from children with normal karyotype. We report on phenotypically
unremarkable nine-year-old girl with short stature and mixed gonadal dysgenesis, submitted to prophylactic laparoscopic gonadectomy.
In conclusion, short stature may be the only phenotypic sign of mixed gonadal dysgenesis in pre-pubertal children.

Keywords

prophylactic laparoscopic gonadectomy; mixed gonadal dysgenesis

Hrčak ID:

216951

URI

https://hrcak.srce.hr/216951

Publication date:

25.6.2018.

Article data in other languages: croatian

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