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Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report

Authors :
Katarzyna Plagens-Rotman
Grażyna Jarząbek-Bielecka
Piotr Merks
Katarzyna Wróblewska-Seniuk
Małgorzata Mizgier
Ewa Jakubek
Samuel Grześkiewicz
Małgorzata Wójcik
Witold Kędzia
Source :
Clinical and Experimental Obstetrics & Gynecology, Vol 49, Iss 4, p 85 (2022)
Publication Year :
2022
Publisher :
IMR Press, 2022.

Abstract

Background: Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant genetic condition caused by mutations in STK11 (Serine/threonine kinase 11) gene (OMIM 602216 Serine/Threonine Protein Kinase 11) located in the short arm of chromosome 19 (19p.13.3). Case: We report the case of a 4 and ½ year-old female child with a rare Peutz-Jeghers Syndrome. She was admitted to the Clinic of Gynaecology, the Faculty of Perinatology and Gynaecology, Chair of Adolescence Gynaecology and Sexology at Poznan University of Medical Sciences, in order to undergo preventive medical examinations. The patient was accompanied by her mother. Age and sex-appropriate development. Age-appropriate dental condition. Gynaecological examination was conducted. No changes were identified through palpation. Normal ultrasound picture. No symptoms of genital mucosa estrogenization, which is typical of the patient’s age. A small amount of vaginal discharge was found. Pap smear was conducted to assess vaginal biocenosis. Lacidobacilli deficiency was found and feminine hygiene products, such as Iladian, were recommended. Melanotic macules around the mouth, typical of Peutz-Jeghers Syndrome were identified. Conclusions: Due to the increased cancer risk in patients with Peutz-Jeghers Syndrome, more frequent medical and gynaecological examinations are recommended for the girl. It should be noted that the girl’s mother decision to have her daughter examined at such a young age was appropriate.

Details

Language :
English
ISSN :
03906663
Volume :
49
Issue :
4
Database :
Directory of Open Access Journals
Journal :
Clinical and Experimental Obstetrics & Gynecology
Publication Type :
Academic Journal
Accession number :
edsdoj.4fc835ca736b4bb4ad3db3a0ec4d59ef
Document Type :
article
Full Text :
https://doi.org/10.31083/j.ceog4904085