P05 | Could diabetes correlate with a congenital disorder?
Year: 2025
Type: article
Study design: Case Report
Abstract: Premises: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina with normal secondary sex characteristics and normal female karyotpe (46, XX). It affects 1/4.000 women and it is the second most common cause of primary amenorrhea. The existence of familial cases lends strong support to a genetic origin of this disorder. It is often associated with urinary tract and skeleton abnormalities, renal aplasia and endocrinological disorders.Description of the Case report: We describe a single case report of a 47 yrs-old woman affected by MRKH who came to emergency because of vomit, myalgias and polydipsia. The blood analysis showed a state of hyperglycemia, ketoacidosis with glycated hemoglobin =12.7%. She has been treated with insulin and hydration and the clinical course was regular but our question was if the diabetes could be related with MRKH syndrome.Conclusions: We looked for genetic anomalies reported in literature that could have demonstrated correlation between MRKH and diabetes. We found 4 case report in which MRKH was associated to diabetes 1/2 and 2 case reports in which MRKH was associated with a deletion at chromosome 17q12. This deletion, involving HNFB1 gene, is the first genomic disorder resulting in diabetes. It has also been reported in subjects with developmental kidney abnormalities. So we asked, even if there’s only a few cases reported, whether it could be important, to carry out screening for other endocrine disorders, especially diabetes, to avoid sudden onset.
Source: Italian Journal of Medicine
Authors: Vo Van Kha, Tran Thi Huong Ly, Pham Thi Thanh Hoa, Vo Huynh Nhu, Damas Hendriansyah, Nusratuddin Abdullah, Rudy B. Leonardy, Mardiah Tahir, Samrichard Rambulangi, Firdaus Hamid, Filomena Pietrantonio, Vera Kopsaj, Francesco Rosiello, Aurora Tomassoni, Luca Moriconi, Donatella Padua, Kiki Rizki Amelia, Efendi Lukas, Nurbani Bangsawan, Isharyah Sunarno, Retno Budiarti Farid, Sriwijaya Qadar, Rabab H. Elshaikh, Ashok Kumar Sah, Abdelrahman Mohamed Abukanna, Abdulrahman Algarni, Ammar Abdelmola, Hussam Ali Osman, Tagwa Yousif Elsayed Yousif, Elryah I. Ali, Hiba Ali, Ayman Hussein Alfeel, Thanh Long Nguyen, Victor Storm, Lam Toi Phung, Cong Thien Le, Thi Thu Ha Le, Thi Hoa Nguyen, Son Tung Vu, Thien Thang Tran, Minh Hanh Vu, Van Tuan Nguyen, Francesco Ventrella, Anna Belfiore, Antonio Greco, Franco Mastroianni, Salvatore Lenti, Domenico Ruggiero, Michele Cannone, Vincenzo Ostilio Palmieri, Massimo Errico, Giuseppe Mancia, Guido Grassi, Sverre E. Kjeldsen
Language: English
Subfield: Obstetrics and Gynecology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4413795094