Diabetes Mellitus With Renal and Müllerian Anomalies
| Autor: | Aaron Chapla, Khushboo Agarwal, Anuradha Chandramohan, Felix K Jebasingh, Chandra Singh, Nihal Thomas |
|---|---|
| Rok vydání: | 2022 |
| Předmět: |
Pediatrics
medicine.medical_specialty Bicornuate uterus maturity-onset diabetes of the young MODY 5 Population Case Report Diseases of the endocrine glands. Clinical endocrinology Maturity onset diabetes of the young Pathognomonic DM diabetes mellitus medicine Family history education Genetic testing education.field_of_study medicine.diagnostic_test business.industry General Medicine RC648-665 medicine.disease HNF1β hepatocyte nuclear factor-1 beta HNF1β Müllerian agenesis müllerian agenesis next-generation sequencing MODY maturity-onset diabetes of the young business |
| Zdroj: | AACE Clinical Case Reports, Vol 8, Iss 1, Pp 22-24 (2022) AACE Clinical Case Reports |
| ISSN: | 2376-0605 |
| Popis: | Objective Maturity-onset diabetes of the young (MODY) type 5 is caused by an autosomal dominant mutation in the HNF1B gene. Our objective was to report a case of a young girl with bicornuate uterus and recurrent renal stones with diabetes mellitus (DM) without a family history that was diagnosed to be MODY 5. Case Report A 12-year-old girl presented with recurrent renal stones that were managed with lithotripsy and double-J stenting at various time points. At the age of 14 years, she was found to have a bicornuate uterus with an absent cervix and vagina. She was diagnosed with DM at the age of 16 years without a preceding history of osmotic symptoms or steatorrhea. Although there was no family history of young-onset diabetes, given her long-standing history of mullerian abnormalities, renal cysts, and pancreatic hypotrophy, she was evaluated for MODY. Using the next-generation sequencing, she was found to be positive for a reported HNF1B gene pathogenic mutation c.494G>A (p.Arg165His), confirming a diagnosis of MODY 5. Discussion There is a significant overlap in clinical criteria for type 2 DM and MODY in the Asian Indian population. The HNF1B gene mutation is difficult to diagnose as none of the clinical manifestations are pathognomonic and many lack a family history of DM. Diagnostic algorithms with specific clinical and biochemical criteria along with pancreatic imaging can help in case detection and direct toward particular genetic mutation analysis. Conclusion We suggest that genetic testing be offered to patients with otherwise unexplained DM and such genitourinary anomalies. |
| Databáze: | OpenAIRE |
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