Čemerkaitė, Aistė

Type 1 diabetes (T1D) incidence is rising globally, with significant regional variation. Data from highly homogeneous populations, such as Lithuanian, may contribute to a better understanding of contributing T1D factors. This study examines 24-year trends in childhood T1D incidence and seasonal patterns in Lithuania.

Introduction Lipodystrophy syndromes are a heterogeneous group of diseases, where the primary defect is the loss of functional adipocytes. This leads to ectopic steatosis, severe dyslipidemia, and insulin resistance [1,2]. Case Presentation A 34-year-old woman with type 1 diabetes, hypertriglyceridemia, polycystic ovary syndrome (PCOS), and arterial hypertension (HTN) was hospitalized in the Endocrinology Department of LSMU Kaunas Clinics due to poorly controlled glycemia. At admission, she was at 18 weeks of gestation (gravida III, para II). Family history was significant for diabetes, affecting the patient’s brother, sister, and both grandmothers. Due to suspected genetically inherited diabetes, the patient was sent for genetic consultation. Conclusion of the Genetic Evaluation: Peroxisome Proliferator-Activated Receptor Gamma (PPARG) gene mutation causing familial partial lipodystrophy (FPLD3). Following a multidisciplinary team meeting, leptin therapy was not indicated during pregnancy. Furthermore, amniocentesis revealed a PPARG gene mutation. The patient’s brother and sister were referred for genetic consultation, as both have symptoms characteristic of FPLD3. A 32-year-old brother has HTN, hypertriglyceridemia, and type 2 diabetes. 36-year-old sister - HTN, unspecified diabetes with insulin resistance, hypertriglyceridemia with need for plasmapheresis, suspected of PCOS. Conclusion of the Genetic Evaluation: PPARG gene mutation. Discussion FPLD3 is the most common form and is usually an autosomal dominant Mendelian disorder. It has been estimated that their global prevalence is 1.7–2.8 cases per million for FPLD3 [2]. The main symptoms are hypertriglyceridemia, diabetes, HTN, PCOS, and liver steatosis [3]. No welldefined diagnostic criteria have been established for lipodystrophy. Thus, its diagnosis is based on medical history, physical examination, body composition, and the evaluation of metabolic complications [2]. Treatment focuses on intensive management of metabolic complications. Leptin replacement therapy with metreleptin is indicated in FPLD3 patients with severe metabolic complications and low leptin levels [4]. Conclusions Familial partial lipodystrophy is a very rare disease [1-4]. This clinical case highlights the importance of thoroughly evaluating not only the patient but also at-risk family members.

Introduction Syndrome of inappropriate antidiuretic hormone (ADH) secretion (SIADH) is characterized by excessive ADH activity, impaired water excretion, euvolemic hyponatremia, concentrated urine [1]. Most common causes: malignancy, CNS disorders, medications, postoperative states, head trauma [2,3]. SIADH is frequently diagnosed, yet effective correction of hyponatremia is often difficult. Case Presentation A 62-year-old man was admitted after a seizure during cranial CT in April 2025. Anamnesis: left nephrectomy due to renal cell carcinoma (RCC) was performed in December 2024. Initial laboratory tests – hyponatremia (127 mmol/L). Brain MRI showed a left occipital lobe metastasis, which was resected and histologically confirmed as RCC metastasis. After surgery, severe chronic hyponatremia persisted (115–122 mmol/L). Further endocrinological evaluation: hyponatremia (116 mmol/L), low serum osmolality (254 mOsm/kg), high urine osmolality (614 mOsm/kg), and elevated urine sodium (86 mmol/L), consistent with SIADH, most likely related to malignancy or recent neurosurgery. Hyponatremia was managed by a multidisciplinary team. Potentially causative medications were discontinued, fluid restriction, hypertonic saline and furosemide 20 mg/day were initiated without adequate response. SGLT2 inhibitors were discontinued due to a generalized pruritic rash. An oral urea formulation prepared by the LSMU pharmacy was administered (30 g in the morning and 15 g in the evening), representing the first use of urea for SIADH treatment at Kauno Klinikos. Serum sodium increased to 126 mmol/L. Target sodium range was defined as 120–129 mmol/L and the patient was discharged for outpatient follow-up on the same treatment. Discussion SIADH treatment includes fluid restriction, hypertonic saline or sodium supplementation in symptomatic patients, and loop diuretics [1]. Oral urea has re-emerged as an effective, safe, and cost-efficient option for chronic or refractory SIADH. Yet it is limited by uncertain long-term outcomes and side effects such as allergic reactions [4, 5], while SGLT2 inhibitors represent an adjunctive option with limited evidence [6]. Conclusions In this case SIADH management was challenging and required a multidisciplinary approach. Oral urea was effective and could be considered as an alternative treatment for hyponatremia caused by SIADH.

Monogenic diabetes (MD) is a rare form of diabetes resulting from single-gene defects. While diagnostic guidelines are well established for young patients, individuals >25 years are frequently overlooked, despite the clinical value of molecular diagnosis for personalized therapy.

Background/Objectives: The aim of this study was to identify systemic, metabolic, and host-related prognostic factors for long-term outcomes in patients with a diabetic foot ulcer (DFU). Methods: One hundred patients were selected from a high-risk cohort of 426 individuals with a DFU (January 2021–January 2023) based on predefined inclusion and exclusion criteria. Clinical, laboratory, and imaging data were collected. Outcomes were categorized as favorable (healing) or unfavorable (non-healing, re-ulceration, amputation, or death). Prognostic factors were analyzed using random forest and categorical boosting models, with SHAP values to determine the importance of individual predictors. Results: The median age of participants was 65 years (interquartile range [IQR], 57–69.25), and the median duration of diabetes was 18 years (IQR, 12–26). Over a mean 2.1-year follow-up, unfavorable outcomes occurred in 53% of the whole cohort and in 36% of survivors. The strongest predictors of poor prognosis were prior amputation, elevated inflammatory markers, reduced eGFR, and dyslipidemia. Triglycerides showed a U-shaped association with outcomes. A lower BMI and shorter diabetes duration paradoxically were also linked to poorer prognosis. Glycemic control, comorbidities, and local foot characteristics had limited predictive value. Conclusions: Long-term DFU prognosis is driven mainly by systemic and host-related factors rather than by ulcer characteristics alone. Inflammation, renal dysfunction, dyslipidemia—particularly triglycerides—and prior amputation were the strongest predictors of unfavorable outcomes.

Pirmojo tipo cukrinis diabetas (1 tipo CD) - dažniausia lėtinė neinfekcinė vaikų liga. Nors ir didėjant sergamumui šia liga, vis dar trūksta pakankamo medikų ir visuomenės dėmesio ligos manifestacijai, kadangi, įvairių autorių duomenimis, 20,7-55% atvejų 1 tipo CD diagnozuojamas pasireiškus gyvybei grėsmingai būklei - diabetinei ketoacidozei (DKA). Šio tyrimo tikslas: išanalizuoti sergamumo bei DKA pasireiškimo dažnį Lietuvoje 2018 - 2024 m. Metodika: tai retrospektyvinis tyrimas, į kurį įtraukti duomenys apie vaikų 1 tipo CD manifestacijų. Tyrimui gautas etikos komiteto leidimas (Nr. BE-10-6). Rezultatai: 1 tipo CD sergamumo vidurkis 2018-2024 m. buvo 28,0 atvejo 100 000 vaikų (0-14 m. amžiaus), pikas 2021 m. (36,4 atv./100 000). Didžiausias sergamumas buvo 10-14 m. grupėje (p<0,01). Išanalizuoti 355 pacientų duomenys ligos pradžioje. DKA dažnio vidurkis per analizuotų laikotarpį 37,1%. Pagal DKA laipsnius: lengva DKA nustatyta - 9,9% atvejų, vidutinė - 29,3%, sunki - 21,1%. 18 pacientų diagnozės nustatymo metu pH buvo <7,0. DKA dažnis visose amžiaus grupėse buvo panašus, statistiškai nesiskyrė. Bent vienas teigiamas antikūnas nustatytas 89,9% pacientų. Teigiami GAD65 ir antikūnai prieš insuliną - po 83,4%, IA-2 - 86,2%). Visi trys teigiami žymenys nustatyti 67,3% atvejų. Išvados: 2018-2024 m. vaikų 1 tipo CD sergamumas reikšmingai padidėjo COVID-19 pandemijos metu, tačiau pastaraisiais metais stebima stabilizacija. Liga dažniausiai diagnozuojama paauglystėje, o daugiau nei trečdalis pacientų į gydymo įstaigas patenka jau su DKA, dažnai - vidutinio ar sunkaus laipsnio. Dėl to būtina didinti ligos atpažinimą ir svarstyti patikros programų diegimą, ypač turint omenyje naujus autoimuninių ligų gydymo būdus, kurie galėtų sumažinti sergamumą ir sveikatos sistemos kaštus.

Congenital Adrenal Hyperplasia (CAH), a genetic adrenal gland disorder, can disrupt hormonal balance, leading to fertility issues in females. Timely interventions, like hormone therapy, are essential for managing fertility concerns and ensuring a safe pregnancy for individuals with CAH. A 28-year-old patient consulted an endocrinologist for a detailed examination due to infertility issues persisting for 2 years. Prior to this, the patient had given birth to a 22-week-old newborn who died within the first day due to infection. During the investigation of infertility causes, 17-OH was incidentally tested despite the absence of hyperandrogenism symptoms (regular menstrual cycle, no hirsutism, no acne). A significantly elevated 17-OH level was found (63.81 nmol/l). Suspecting congenital adrenal hyperplasia, a Synacthen test was performed, but the diagnosis was ruled out (Synacthen test results: 17-OH 0‘ 11.9 nmol/l, 30‘ 11.8 nmol/l, 60‘ 9.06 nmol/l). The patient consulted with a geneticist, and two pathogenic variants of the CYP21A2 gene were identified. Upon repeating the Synacthen test, CAH was diagnosed (Synacthen test results: 17-OH 0‘ 37.3 nmol/l, 30‘ 154 nmol/l, 60‘ 199 nmol/l). Treatment with dexamethasone 0.25 mg/p was prescribed, assisted fertilization was recommended, and the male partner was advised to undergo CYP21A2 mutation screening (not detected). The patient underwent intrauterine insemination, but it was unsuccessful: at 13 weeks, a single embryo reduction was performed, and at 17 weeks, there was a miscarriage of the second fetus. Two days later, with no remaining fetal cardiac activity, an abortion was performed. After the unsuccessful pregnancy, the patient was reevaluated by a geneticist, and antiphospholipid syndrome was confirmed (anti-cardiolipin antibodies (IgM) - 99.96). The patient underwent a second intrauterine insemination and one successfully implanted. Due to CAH, dexamethasone was discontinued, and hydrocortisone 5 mg was started three times a day. Aspirin and low-molecularweight heparin were prescribed for antiphospholipid syndrome. During pregnancy, the patient consulted with a geneticist again, and it was assessed that the risk of CAH for the fetus was minimal (the fetus is an obligate carrier of one pathogenic variant of the CYP21A2 gene). Chromosomal anomaly testing (PRISCA) was performed with low-risk results. A healthy male newborn was delivered via cesarean section at 38 weeks (APGAR 9). Stress doses of hydrocortisone were administered during delivery, and the postoperative period was uneventful. In conclusion, despite complexities involving congenital adrenal hyperplasia, antiphospholipid syndrome, and infertility, a multidisciplinary approach, including genetic consultations, resulted in the successful delivery of a healthy newborn.

Diabetinė sensorinė polineuropatija (DSPN) pasireiškia maždaug trečdaliui diabetu sergančių žmonių. [...].

Context Cystic adenomas of the parathyroid gland are relatively rare, with an estimated incidence of 0.3-1.5% of all parathyroid tumors. These tumors are benign and typically present as a single cyst or multiple small cysts within a solid nodule. Due to their rarity and nonspecific imaging features it may be challenging to diagnose preoperatively. However, the diagnosis is confirmed by fine-needle aspiration(FNA) biopsy and pathological examination of the tissue obtained by FNA. Case Illiustration We report the case of a 69-year-old woman admitted to endocrinologist’s due to increased sweating and worsening eyesight. The patient had a multifocal goitre that did not require any particular treatment. She was found to have hypercalcemia (2.95 mmol/l; normal: 2.2-2.65 mmol/l), hypercalciuria (10.03mmol/24 h; normal 0-6.2 mmol/24 h) and elevated PTH (26.4 pmol/l; normal:1.26-6.74 pmol/l). The plasma phosphorus (0.86 mmol/l; normal: 0.81-1.45mmol/l), urine phosphorus (30.0 mmol/24 h; normal: 12.9-42 mmol/24 h) and 25-hydroxyvitamin D (76.60 nmol/l; normal: 70-250 nmol/l) were normal. There was no renal failure or osteoporosis. Ultrasonography of the neck revealed a 1.4x0.7x0.9 cm cystic mass below the left lobe of the thyroid gland. The nodule found in ectopic thyroid tissue had a mixture of solid and cystic components, this is not a typical feature of a parathyroid gland. SPEC/CT of the neck and mediastinum with 99mTc-MIBI was performed. There was no evidence of accumulation of radiopharmaceutical 99mTc-MIBI, the absence of a parathyroid adenoma was confirmed. As a result of the high previous suspicion of the parathyroid adenoma, it was decided to conduct a fine-needle aspiration of the solid nodule. Cytological and biochemical tests (PTH analysis in rinse material revealed high PTH (210.6 pmol/l)) confirmed parathyroid gland. The multidisciplinary consortium made the decision that surgical treatment is the most appropriate treatment for a parathyroid adenoma. After a parathyroidectomy, histological examination was performed, the diagnosis of a cystic parathyroid adenoma was confirmed. Additionally, post-operative laboratory tests showed normal levels of calcium (2.44 mmol/l) and PTH (2.03 pmol/l) which indicates that surgery was successful. Discussion Cystic parathyroid adenomas are rare and have unique characteristics that can make them challenging to diagnose and treat. An experienced endocrine surgeon and multidisciplinary team approach is recommended to manage these cases.