Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report
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...
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| Format: | Article |
| Language: | English |
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IMR Press
2022-04-01
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| Series: | Clinical and Experimental Obstetrics & Gynecology |
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| Online Access: | https://www.imrpress.com/journal/CEOG/49/4/10.31083/j.ceog4904085 |
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| author | Katarzyna Plagens-Rotman Grażyna Jarząbek-Bielecka Piotr Merks Katarzyna Wróblewska-Seniuk Małgorzata Mizgier Ewa Jakubek Samuel Grześkiewicz Małgorzata Wójcik Witold Kędzia |
| author_facet | Katarzyna Plagens-Rotman Grażyna Jarząbek-Bielecka Piotr Merks Katarzyna Wróblewska-Seniuk Małgorzata Mizgier Ewa Jakubek Samuel Grześkiewicz Małgorzata Wójcik Witold Kędzia |
| author_sort | Katarzyna Plagens-Rotman |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-4fc835ca736b4bb4ad3db3a0ec4d59ef |
| institution | OA Journals |
| issn | 0390-6663 |
| language | English |
| publishDate | 2022-04-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Clinical and Experimental Obstetrics & Gynecology |
| spelling | doaj-art-4fc835ca736b4bb4ad3db3a0ec4d59ef2025-08-20T01:56:32ZengIMR PressClinical and Experimental Obstetrics & Gynecology0390-66632022-04-014948510.31083/j.ceog4904085S0390-6663(22)01739-0Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case reportKatarzyna Plagens-Rotman0Grażyna Jarząbek-Bielecka1Piotr Merks2Katarzyna Wróblewska-Seniuk3Małgorzata Mizgier4Ewa Jakubek5Samuel Grześkiewicz6Małgorzata Wójcik7Witold Kędzia8Hipolit Cegielski State University of Applied Sciences, 62-200 Gniezno, PolandDivision of Developmental Gynaecology and Sexology, Department of Perinatology and Gynaecology, Poznań University of Medical Sciences, 60-535 Poznan, PolandFaculty of Medicine, Collegium Medicum, Cardinal Stefan Wyszyński University, 01-938 Warsaw, PolandDepartment of Newborns' Infectious Diseases, Poznan University of Medical Sciences, 60-535 Poznan, PolandDepartment of Dietetics, Poznan University of Physical Education, Faculty of Physical Culture in Gorzów Wielkopolski, 61-871 Poznań, PolandDepartament of Organization and Management in Heathcare, Organization and Management in Healthcare, Faculty of Health Sciences, Poznan University of Medical Sciences, 60-001 Poznań, PolandScience Students Circle, Institute of Health Sciences, Hipolit Cegielski State University of Applied Sciences, 62-200 Gniezno, PolandHipolit Cegielski State University of Applied Sciences, 62-200 Gniezno, PolandDivision of Developmental Gynaecology and Sexology, Department of Perinatology and Gynaecology, Poznań University of Medical Sciences, 60-535 Poznan, PolandBackground: 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.https://www.imrpress.com/journal/CEOG/49/4/10.31083/j.ceog4904085childrenpolyposispeutz-jeghers syndrome |
| spellingShingle | Katarzyna Plagens-Rotman Grażyna Jarząbek-Bielecka Piotr Merks Katarzyna Wróblewska-Seniuk Małgorzata Mizgier Ewa Jakubek Samuel Grześkiewicz Małgorzata Wójcik Witold Kędzia Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report Clinical and Experimental Obstetrics & Gynecology children polyposis peutz-jeghers syndrome |
| title | Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report |
| title_full | Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report |
| title_fullStr | Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report |
| title_full_unstemmed | Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report |
| title_short | Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report |
| title_sort | peutz jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report |
| topic | children polyposis peutz-jeghers syndrome |
| url | https://www.imrpress.com/journal/CEOG/49/4/10.31083/j.ceog4904085 |
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