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

Abstract

Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report Katarzyna Plagens-Rotman1,*, Grażyna Jarząbek-Bielecka2 , Piotr Merks3 , Katarzyna Wróblewska-Seniuk4 , Małgorzata Mizgier5 , Ewa Jakubek6 , Samuel Grześkiewicz7 , Małgorzata Wójcik1 , Witold Kędzia2 1Hipolit Cegielski State University of Applied Sciences, 62-200 Gniezno, Poland 2Division of Developmental Gynaecology and Sexology, Department of Perinatology and Gynaecology, Poznań University of Medical Sciences, 60-535 Poznan, Poland 3Faculty of Medicine, Collegium Medicum, Cardinal Stefan Wyszyński University, 01-938 Warsaw, Poland 4Department of Newborns’ Infectious Diseases, Poznan University of Medical Sciences, 60-535 Poznan, Poland 5Department of Dietetics, Poznan University of Physical Education, Faculty of Physical Culture in Gorzów Wielkopolski, 61-871 Poznań, Poland 6Departament of Organization and Management in Heathcare, Organization and Management in Healthcare, Faculty of Health Sciences, Poznan University of Medical Sciences, 60-001 Poznań, Poland 7Science Students Circle, Institute of Health Sciences, Hipolit Cegielski State University of Applied Sciences, 62-200 Gniezno, Poland *Correspondence: plagens.rotman@gmail.com (Katarzyna Plagens-Rotman) Academic Editor: Michael H. Dahan Submitted: 1 September 2021 Revised: 21 October 2021 Accepted: 29 October 2021 Published: 8 April 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 sexappropriate 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. Keywords: Children; Polyposis; Peutz-Jeghers syndrome