of life. Patients present with protuberant abdomen due to hepatomegaly, relatively thin extremities, hypoglycaemia, lactic acidosis, hyperlipidaemia and hyperuricaemia. Trivial events (a short delay in taking a meal or a lower intake of carbohydrates
Betty Korljan Jelaska, Sanja Baršić Ostojić, Nina Berović, and Višnja Kokić
Elena Carrillo, Amparo Lomas, Pedro J Pinés, and Cristina Lamas
Mutations in hepatocyte nuclear factor 1β gene (HNF1B) are responsible for a multisystemic syndrome where monogenic diabetes (classically known as MODY 5) and renal anomalies, mostly cysts, are the most characteristic findings. Urogenital malformations, altered liver function tests, hypomagnesemia or hyperuricemia and gout are also part of the syndrome. Diabetes in these patients usually requires early insulinization. We present the case of a young non-obese male patient with a personal history of renal multicystic dysplasia and a debut of diabetes during adolescence with simple hyperglycemia, negative pancreatic autoimmunity and detectable C-peptide levels. He also presented epididymal and seminal vesicle cysts, hypertransaminasemia, hyperuricemia and low magnesium levels. In the light of these facts we considered the possibility of a HNF1B mutation. The sequencing study of this gene confirmed a heterozygous mutation leading to a truncated and less functional protein. Genetic studies of his relatives were negative; consequently, it was classified as a de novo mutation. In particular, our patient maintained good control of his diabetes on oral antidiabetic agents for a long period of time. He eventually needed insulinization although oral therapy was continued alongside, allowing reduction of prandial insulin requirements. The real prevalence of mutations in HNF1B is probably underestimated owing to a wide phenotypical variability. As endocrinologists, we should consider this possibility in young non-obese diabetic patients with a history of chronic non-diabetic nephropathy, especially in the presence of some of the other characteristic manifestations.
- HNF1B mutations are a rare cause of monogenic diabetes, often being a part of a multisystemic syndrome.
- The combination of young-onset diabetes and genitourinary anomalies with slowly progressive nephropathy of non-diabetic origin in non-obese subjects should rise the suspicion of such occurrence. A family history may not be present.
- Once diagnosis is made, treatment of diabetes with oral agents is worth trying, since the response can be sustained for a longer period than the one usually described. Oral treatment can help postpone insulinization and, once this is necessary, can help reduce the required doses.
Aysenur Ozderya, Sule Temizkan, Kadriye Aydin Tezcan, Feyza Yener Ozturk, and Yuksel Altuntas
adulthood, and the diagnosis is commonly made in males that are infertile or have gynaecomastia (6) . Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and
Marina Yukina, Nurana Nuralieva, Maksim Solovyev, Ekaterina Troshina, and Evgeny Vasilyev
. Concomitant diseases included grade II obesity (BMI 36.0 kg/m 2 ), dyslipidaemia, hyperuricaemia, cholelithiasis, hiatal hernia, and mixed gastritis (superficial and erosive). In 2016, the patient had surgery (removal of the uterus and ovaries) for bilateral
throughout his childhood, although oral or intravenous glucocorticoids were not administrated according to the history provided by the patient. He also had hyperuricaemia with urolithiasis and nephrolithiasis at the age of 27 years, for which he received