Patient with Martin-Bell syndrome and premenstrual syndrome, tendency for obesity from puberty
Background: Fragile X syndrome (FRA X) is the most common cause of inherited moderate intellectual disability. The cause of FRA X syndrome is a dynamic mutation in the FMR1 gene (located on the X sex chromosome—long arm, position 27.3, between base pairs 147 911 951 and 147 951 125). Case(s): A pati...
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| Format: | Article |
| Language: | English |
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IMR Press
2022-03-01
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| Series: | Clinical and Experimental Obstetrics & Gynecology |
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| Online Access: | https://www.imrpress.com/journal/CEOG/49/3/10.31083/j.ceog4903073 |
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| author | Grażyna Jarząbek-Bielecka Małgorzata Mizgier Katarzyna Plagens-Rotman Piotr Merks Katarzyna Wróblewska-Seniuk Witold Kędzia Magdalena Pisarska-Krawczyk |
| author_facet | Grażyna Jarząbek-Bielecka Małgorzata Mizgier Katarzyna Plagens-Rotman Piotr Merks Katarzyna Wróblewska-Seniuk Witold Kędzia Magdalena Pisarska-Krawczyk |
| author_sort | Grażyna Jarząbek-Bielecka |
| collection | DOAJ |
| description | Background: Fragile X syndrome (FRA X) is the most common cause of inherited moderate intellectual disability. The cause of FRA X syndrome is a dynamic mutation in the FMR1 gene (located on the X sex chromosome—long arm, position 27.3, between base pairs 147 911 951 and 147 951 125). Case(s): A patient born in 1993 along with her mother was referred to the Department of Developmental Age Gynaecology and Gynaecological Sexology of the Obstetrical Clinical Hospital at the Poznań University of Medical Sciences (Poland) because of existing recurrent menstrual cycle disorders and recurrent genital inflammation. From her history since childhood, this patient had fluctuating body weight with a tendency for overweight and obesity. Contact with the patient was difficult, she was reluctant to answer questions during the medical interview. There is a family history of intellectual disability. The patient required continuous gynaecological and psychiatric care, diet therapy, physical activity was recommended, which had a beneficial effect on the patient’s somatic and mental health. Conclusions: The diagnosis of fragile X syndrome involved not only the patient but also her family in a very broad interdisciplinary approach, also in terms of genetic counselling. Additional problems with cycle disorders, genital inflammation and weight disorders mean that the patient will still require gynaecological and psychiatric care, diet therapy, and physical activity has been recommended, which has a beneficial effect on the patient’s somatic and mental health. |
| format | Article |
| id | doaj-art-9d5b4fe764ed47d69a98c5d4e7e6ed64 |
| institution | Kabale University |
| issn | 0390-6663 |
| language | English |
| publishDate | 2022-03-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Clinical and Experimental Obstetrics & Gynecology |
| spelling | doaj-art-9d5b4fe764ed47d69a98c5d4e7e6ed642025-08-20T03:48:32ZengIMR PressClinical and Experimental Obstetrics & Gynecology0390-66632022-03-014937310.31083/j.ceog4903073S0390-6663(22)01724-9Patient with Martin-Bell syndrome and premenstrual syndrome, tendency for obesity from pubertyGrażyna Jarząbek-Bielecka0Małgorzata Mizgier1Katarzyna Plagens-Rotman2Piotr Merks3Katarzyna Wróblewska-Seniuk4Witold Kędzia5Magdalena Pisarska-Krawczyk6Division of Developmental Gynecology and Sexology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, 60-535 Poznan, PolandDepartment of Dietetics, Faculty of Physical Culture in Gorzów Wielkopolski, Poznan University of Physical Education, 61-871 Poznan, PolandInstitute of Health Sciences, Hipolit Cegielski State University of Applied Sciences, 62-200 Gniezno, PolandDepartment of Pharmacology and Clinical Pharmacology, Faculty of Medicine, Collegium Medicum, Cardinal Stefan Wyszyński University, 01-938 Warsaw, PolandDepartment of Newborns’ Infectious Diseases, Poznan University of Medical Sciences, 60-535 Poznan, PolandDivision of Developmental Gynecology and Sexology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, 60-535 Poznan, PolandNursing Department, President Stanisław Wojciechowski State University of Kalisz, 62-800 Kalisz, PolandBackground: Fragile X syndrome (FRA X) is the most common cause of inherited moderate intellectual disability. The cause of FRA X syndrome is a dynamic mutation in the FMR1 gene (located on the X sex chromosome—long arm, position 27.3, between base pairs 147 911 951 and 147 951 125). Case(s): A patient born in 1993 along with her mother was referred to the Department of Developmental Age Gynaecology and Gynaecological Sexology of the Obstetrical Clinical Hospital at the Poznań University of Medical Sciences (Poland) because of existing recurrent menstrual cycle disorders and recurrent genital inflammation. From her history since childhood, this patient had fluctuating body weight with a tendency for overweight and obesity. Contact with the patient was difficult, she was reluctant to answer questions during the medical interview. There is a family history of intellectual disability. The patient required continuous gynaecological and psychiatric care, diet therapy, physical activity was recommended, which had a beneficial effect on the patient’s somatic and mental health. Conclusions: The diagnosis of fragile X syndrome involved not only the patient but also her family in a very broad interdisciplinary approach, also in terms of genetic counselling. Additional problems with cycle disorders, genital inflammation and weight disorders mean that the patient will still require gynaecological and psychiatric care, diet therapy, and physical activity has been recommended, which has a beneficial effect on the patient’s somatic and mental health.https://www.imrpress.com/journal/CEOG/49/3/10.31083/j.ceog4903073martin-bell syndromediagnosispatient |
| spellingShingle | Grażyna Jarząbek-Bielecka Małgorzata Mizgier Katarzyna Plagens-Rotman Piotr Merks Katarzyna Wróblewska-Seniuk Witold Kędzia Magdalena Pisarska-Krawczyk Patient with Martin-Bell syndrome and premenstrual syndrome, tendency for obesity from puberty Clinical and Experimental Obstetrics & Gynecology martin-bell syndrome diagnosis patient |
| title | Patient with Martin-Bell syndrome and premenstrual syndrome, tendency for obesity from puberty |
| title_full | Patient with Martin-Bell syndrome and premenstrual syndrome, tendency for obesity from puberty |
| title_fullStr | Patient with Martin-Bell syndrome and premenstrual syndrome, tendency for obesity from puberty |
| title_full_unstemmed | Patient with Martin-Bell syndrome and premenstrual syndrome, tendency for obesity from puberty |
| title_short | Patient with Martin-Bell syndrome and premenstrual syndrome, tendency for obesity from puberty |
| title_sort | patient with martin bell syndrome and premenstrual syndrome tendency for obesity from puberty |
| topic | martin-bell syndrome diagnosis patient |
| url | https://www.imrpress.com/journal/CEOG/49/3/10.31083/j.ceog4903073 |
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