Dėnaitė, Dovilė

Nutukimas - viena aktualiausių dabartinės visuomenės problemų, neigiamai veikianti daugelį organizmo sistemų ir trikdanti sergančiojo šia liga gyvenimo kokybę, darbingumą bei trumpinanti gyvenimą. Tai - metaboliškai aktyvi ir recidyvuojanti liga, kurios metu kūno masė didėja riebalinio audinio sąskaita. Nutukimą kaip ligą Amerikos medicinos asociacija oficialiai pripažino 2013 metais. Nutukimas pastaruoju metu yra labiausiai aptarinėjama tema tiek medicinos, tiek plačiojoje visuomenėje. Kalbant apie nutukimą, dažnai ši būklė siejama su asmeniniu kaltės priskyrimu: „reikia tik noro“, „reikia suimti save į rankas“ ir t. t. Įvairiais istoriniais laikotarpiais požiūris į žmogaus kūno formas keitėsi nuo Rubenso tipo moterų iki anoreksinių mados manekenių formų. Menamų kūno formų standartų neatitinkantis žmogus gali būti pavadintas putliu, stambiu, apkūniu, didelio dydžio ar net storuliu ar apsileidusiu. Medicinos bendruomenėje vyrauja terminai: antsvoris, hipotalaminis, pilvinis, centrinio tipo, kušingoidinis, morbidinis nutukimas ir kt. Nutukimas turi kompleksines pasekmes - skatina lėtines ligas, galinčias sutrumpinti žmogaus amžių 10-15 metų. Per pastaruosius 5 dešimtmečius nutukimo paplitimas pasaulyje padidėjo daugiau nei 3 kartus, ir dabar tai įvardijama kaip nutukimo pandemija. Klinikinėje praktikoje nustatomos įvairiausios nutukimo priežastys - nuo genetinių (Prader-Willi sindromas, Aistrom sindromas, LEPR (leptino receptoriaus) ar LEP (leptino) geno mutacijos ir kt.), endokrininių (hipotirozė, hiperkorticizmas, hipogonadizmas ir kt.) iki valgymo priklausomybių. Skirtingos yra ir nutukusių kūno formos bei kūno kompozicija. Todėl kūno masės indeksas (KMI) klinikiniu požiūriu jau nebetenka prasmės. KMI tikslinga naudoti populiaciniams, palyginamiesiems tyrimams. Statistiniais duomenimis (HIS Lietuva, Eurostat, 2019-2022 m.), pagal KMI nutukusių suaugusių Lietuvoje buvo 21-23 proc. Skaičiuojama, kad apie 60 proc. suaugusiųjų Lietuvoje turi antsvorio ar yra nutukę. Tai - tik statistika, neatspindinti konkrečios individo būklės. 2025 m. pasaulio 58 ekspertų grupė, atstovaujanti įvairioms medicinos specialybėms ir šalims, išanalizavo turimus įrodymus ir, pritarus 75 medikų ir pacientų organizacijoms, rekomendavo klasifikaciją, kurioje išskiriamas ikiklinikinis ir klinikinis nutukimas. Pagal epidemiologinius ir klinikinius duomenis, nutukimas susijęs su daugiau nei 200 skirtingų ligų ir sveikatos sutrikimų. [...]

Šiame straipsnyje nagrinėjama vis didėjanti visuomenės sveikatos problema - vaikų nutukimas. Pastaraisiais metais vaikų nutukimo paplitimas didėja tiek pasaulyje, tiek Lietuvoje. Higienos instituto (HI) duomenimis, 2014-2024 m. nutukusių vaikų skaičius Lietuvoje išaugo daugiau kaip trečdaliu, o daugiausia atvejų nustatoma tarp 11-15 metų amžiaus vaikų. Dažniausios nutukimo klinikinės išraiškos apima insulino rezistencijų, prediabetinę būseną, 2 tipo cukrinį diabetą ir metabolinį sindromą, kuriam būdinga dislipidemija, padidėjęs arterinis kraujo spaudimas (AKS) bei kepenų suriebėjimas. Nutukimas taip pat siejamas su obstrukcine miego apnėja ir pagumburio funkcijos sutrikimais. Šių būklių ankstyvas nustatymas padeda sumažinti tolesnių metabolinių ir kardiovaskulinių komplikacijų riziką. Pagrindinės prevencijos priemonės apima sveikos mitybos įpročių formavimą, fizinio aktyvumo skatinimą ir šeimos dalyvavimą. Gydymas grindžiamas gyvenimo būdo keitimu bei elgesio korekcija, o kai kuriais atvejais taikomi ir medikamentiniai ar chirurginiai metodai. Ankstyvas nutukimo atpažinimas ir ilgalaikė priežiūra gali padėti išvengti sveikatos sutrikimų vaikystėje ir suaugus.

Introduction: Congenital hyperinsulinism (CHI) is a rare, yet severe cause of persistent hypoglycemia in neonates and infants, driven by dysregulated insulin secretion from pancreatic β-cells. Frequently associated with mutations in ABCC8 and KCNJ11, CHI poses significant neurological risks due to recurrent hypoglycemia, which may result in developmental delays, seizures, or brain injury. The disorder may manifest in focal or diffuse forms, necessitating genetic testing and advanced imaging to guide treatment. Early diagnosis and intervention are critical for improving neurodevelopment outcomes. Case Report: A male patient, born at 41 weeks of gestation with a birth weight of 4,400 g (+1.66 SD) and length of 56 cm (+2.0 SD), presented with prolonged neonatal jaundice requiring phototherapy. At six months, episodes of unexplained crying were reported. At one year, he experienced his first seizure episode with upward eye rolling, limb jerking, stiffening, frothy oral secretions, cyanosis, and unresponsiveness followed by fatigue. Hypoglycemia was found during the third seizure (venous glucose: 2.7 mmol/L), prompting further investigation. Admission to pediatric neurology revealed recurrent hypoglycemia on glucose monitoring, with sleep EEG showing no epileptiform activity and brain MRI indicating mild periventricular leukomalacia, linked to prior hypoglycemic episodes. Endocrine evaluation confirmed hyperinsulinemic hypoglycemia: venous glucose: 0.88 mmol/L, insulin: 69.3 mU/L (N: 1.1-17), C-peptide: 2.53 nmol/L (N: 0.23-0.81). Genetic testing revealed a maternally inherited heterozygous pathogenic variant in ABCC8 (NM_001287174.1:c.3992-9G>A). As carriers are typically asymptomatic, insulinoma was considered, but PET/ CT with 68Ga-DOTATOC ruled out focal pancreatic lesions. Follow-up testing revealed recurring hypoglycemia despite low insulin (2.4 mU/L) and C-peptide (0.15 nmol/L) levels, necessitating an increase in diazoxide therapy (25 mg three times daily). Despite early neurological impact linked to hypoglycemia, the patient’s neurodevelopment milestones remained appropriate for age. Conclusion: This case underscores the clinical variability of CHI associated with ABCC8 variants, challenging the assumption of asymptomatic carrier status and highlighting the complexity of managing patients with uncertain genetic findings. Evaluating variant pathogenicity alongside clinical presentation remains essential, supported by a comprehensive diagnostic approach involving genetic testing, advanced imaging, and multidisciplinary care to optimize treatment and guide therapeutic strategies.

Introduction Resistance to thyroid hormone beta (RTHb) is a rare, typically autosomal dominant genetic disorder, caused by mutations in the THRB gene, encoding thyroid hormone receptor beta (TRb), leading to impaired responsiveness to thyroid hormone in tissues expressing TRb. While affected individuals often present with elevated circulating free thyroxine (FT4) and free triiodothyronine (FT3) alongside non-suppressed thyroid-stimulating hormone (TSH), clinical manifestations, ranging from overt symptoms to asymptomatic presentations, complicate diagnosis. This case series highlights phenotypic variability and management of RTHb in two sisters. Case Report The older sister, a 24-year-old woman, was referred to an endocrinologist during her first pregnancy at 26 weeks of gestation for elevated FT3: 4.19 pmol/mL (N 1.58–3.91) with other thyroid function tests normal. Thyroid ultrasound suggested possible autoimmune thyroiditis. She was started on L-thyroxine (50 mg daily), but follow-up two months later showed elevated FT4: 26.05 pmol/l (N 7.87–20.3) and FT3: 6.56 pmol/l (N 3.34–5.14) and non-suppressed TSH: 3.9 mU/l (N 0.4– 3.6). Thyroid antibodies were negative. After delivering a healthy baby, L-thyroxine was discontinued. During her second pregnancy, she again had elevated FT4: 30.54 pmol/l and FT3: 6.65 pmol/l with a non-suppressed TSH: 3.52 mU/l. No treatment was initiated, thyroid hormone levels were monitored throughout pregnancy. Genetic testing confirmed a pathogenic heterozygous mutation in the THRB gene (c.1291AOT, p.Ile431Leu). She delivered another healthy, lower-birth-weight non-carrier baby. The younger sister, a 17-year-old female, underwent genetic testing after her sibling’s diagnosis. Asymptomatic with no thyroid dysfunction on examination, she showed elevated FT4: 30.19 pmol/l and FT3: 7.13 pmol/l, with a non-suppressed TSH: 2.80 mU/l and negative thyroid antibodies (antiTPO, antiTg, antiTSH). Genetic testing confirmed the same THRB (c.1291AOT, p.Ile431Leu) mutation. Clinical management focused on monitoring thyroid function without initiating thyroid hormone suppression or beta-blocker therapy due to the absence of symptoms. Functional testing using a luciferase reporter assay in Jeg-3 cells showed reduced affinity of TRb2-I341L (EC0 I341L vs WT: 9.1 [7.8-10.6] vs 0.71 [0.69-0.74] nM, p!0.001). The T3- affinity of the mutant was significantly reduced, as evident from a ~13-fold higher EC50 for T3 compared to wild-type in the reporter assay. Conclusion This family case demonstrates the phenotypic variability of RTHb, ranging from pregnancy-associated thyroid dysfunction to an asymptomatic carrier state. It underscores the importance of familial genetic screening in diagnosing RTHb and highlights the need for individualized, symptom-based management strategies to avoid overtreatment while ensuring appropriate monitoring for potential complications.

Background Follicular thyroid adenomas, though benign, are rare in pediatric populations and may pose diagnostic and therapeutic challenges due to their potential overlap with malignancies. Burkitt lymphoma, a high-grade B-cell non-Hodgkin lymphoma, accounts for 30% of pediatriclymphomas andtypically presents with rapidly enlarging lymph nodes or extranodal masses. The co-occurrence of these two distinct conditions in a pediatric patient is exceptionally rare and has not been previously reported, underscoring the need for careful evaluation and a multidisciplinary approach to management. Clinical Case We report the case of an 8-year-old male presenting with a one-year history of progressive cervical lymphadenopathy. Clinical examination revealed a 3. 5 cm firm, non-tender, poorly mobile submandibular lymph node conglomerate on the right side, along with smaller lymph nodes in the anterior cervical and submandibular regions bilaterally. The patient exhibited no systemic symptoms of infection or malignancy. Family history revealed malignancies on the maternal side, including intestinal, lung, and uterine cancers, raising concerns about genetic predispositions. Initial investigations, including ultrasonography and fine-needle aspiration biopsy (FNAB) of a thyroid nodule, suggested hyperplastic changes. Biochemical findings were significant for suppressed TSH: !0. 01 mU/l (N 0. 4–3. 6) with elevated FT4: 25. 99 pmol/l (N 7. 87–20. 3), consistent with thyrotoxicosis. Despite antibiotic therapy, the lymphadenopathy persisted, prompting further imaging and evaluation. Subsequent histopathological analysis of a resected thyroid nodule and adjacent lymph nodes revealed the coexistence of Burkitt lymphoma and follicular thyroid adenoma, confirmed by immunohistochemical studies. The patient underwent hemityroidectomy and lymphadenectomy followed by chemotherapy for Burkitt lymphoma. Thyroid hormone replacement therapy was initiated postoperatively, and the patient remains under close endocrinological and oncological follow-up. Discussion This case underscores the importance of a multidisciplinary approach in managing pediatric thyroid nodules and lymphadenopathy, particularly when the presentation deviates from typical patterns. The coexistence of Burkitt lymphoma and follicular thyroid adenoma highlights the need for thorough diagnostic workup, including FNAB, imaging, and histopathological confirmation. Additionally, the potential link to familial cancer syndromes, such as DICER1 mutation, warrants further investigation in this patient. Conclusion This rare case emphasizes the diagnostic and therapeutic challenges posed by concurrent thyroid and lymphoid pathology in children. Awareness of such presentations can aid in timely diagnosis and optimized care strategies.

Šiame straipsnyje nagrinėjama vis aktualesne tampanti priešlaikinio lytinio brendimo problema, kai antriniai lytiniai požymiai atsiranda iki 8 metų mergaitėms ir iki 9 metų berniukams, ankstyvas - iki 9 metų mergaitėms ir 10 metų amžiaus berniukams. Pastaruoju metu stebimos tendencijos rodo, kad brendimas prasideda vis anksčiau, ypač mergaitėms. Ši problema kyla dėl genetinių, aplinkos ir gyvenimo būdo pokyčių, taip pat didėjančios endokrininę sistemą ardančių cheminių medžiagų (sutr. EDC) ekspozicijos. COVID-19 pandemija dar labiau pablogino situaciją, didindama vaikų nutukimo ir streso lygį. Straipsnyje aptariamos priešlaikinio ir ankstyvo brendimo priežastys, tokios kaip nutukimas, mityba, EDC poveikis ir psichosocialiniai stresoriai, bei galimas ankstyvo brendimo poveikis sveikatai, pavyzdžiui, padidėjusi tam tikrų ligų rizika (vėžys, širdies ligos) ir psichologiniai sunkumai (nerimas, depresija). Taip pat aptariami gydymo būdai, didžiausias dėmesys skiriamas gonadotropino išsiskyrimą skatinančio hormono (sutr. GnRH) analogams ir prevencijos strategijoms taikant gyvensenos įpročių pokyčius. Straipsnis pabrėžia ankstyvos diagnozės ir intervencijos svarbą siekiant sumažinti ilgalaikę sveikatos riziką.

Šiame straipsnyje pristatome klinikinį atvejį, kuriuo pateikiame neįprastus skydliaukės hormonų pokyčius. Straipsnyje detalizuojama medicininė informacija 24 metų nėščios moters, kuriai nustatyta reta genetinė mutacija, susijusi su skydliaukės hormonų rezistentiškumu (RTH). Šiuo atveju atkreipiame dėmesį, kad, nėštumo metu esant neįprastiems skydliaukės veiklos rodikliams, rekomenduojamas detalus ištyrimas ir atsakingai parenkamas pats tinkamiausias gydymas, kad būtų pasiektos geriausios baigtys nėščiosios ir naujagimio atžvilgiu. Šiame straipsnyje pateikiama informacija, kokia nėščiųjų stebėsena ir gydymas yra rekomenduojami remiantis tarptautine patirtimi, esant skydliaukės hormonų rezistentiškumui (RTH).

Aim of the study: To evaluate the clinical characteristics and treatment efficacy of patients with severe primary IGF-1 deficiency (PSIGFD) using a recombinant IGF-1 (rhIGF-1). Objectives of the study: To examine the clinical characteristics of patients with PSIGFD before starting treatment with a rIGF-1. To assess the height changes in patients with PSIGFD, before and after treatment with a rhIGF-1. To analyze the clinical characteristics, side effect frequency, and treatment efficacy with a rhIGF-1 analog in patients with PSIGFD. Methods: A retrospective analysis was conducted on patients with PSIGFD treated with the rhIGF-1 (mecasermin). Data were collected from patients’ medical records, focusing on the impact of treatment on their growth and monitoring any side effects. Results: The study showed that treatment with rhIGF-1 positively affects growth rate, especially in the first years of treatment. However, the growth rate decreases over time. The change in height from the beginning to the end of the treatment was 0.76 ± 0.64 SD, with the first quartile at 0.29 SD and the third quartile at 1.14 SD. During the treatment period, patients’ average body mass increased by 0.37 ± 1.35 SD, with the first quartile at −0.33 SD and the third quartile at 0.92 SD. Side effects occurred in 50% of patients, with 40% of patients treated with rhIGF-1 experiencing hypoglycemia during treatment. Conclusions: Treatment with rhIGF-1 is effective in treating patients with PSIGFD, causing significant improvement in growth, but requires continuous monitoring and treatment adjustment.

Aim of the study: To evaluate the clinical characteristics and treatment efficacy of patients with severe primary IGF-1 deficiency (PSIGFD) using a recombinant IGF-1 (rhIGF-1). Objectives of the study: To examine the clinical characteristics of patients with PSIGFD before starting treatment with a rIGF-1. To assess the height changes in patients with PSIGFD, before and after treatment with a rhIGF-1. To analyze the clinical characteristics, side effect frequency, and treatment efficacy with a rhIGF-1 analog in patients with PSIGFD. Methods: A retrospective analysis was conducted on patients with PSIGFD treated with the rhIGF-1 (mecasermin). Data were collected from patients’ medical records, focusing on the impact of treatment on their growth and monitoring any side effects. Results: The study showed that treatment with rhIGF-1 positively affects growth rate, especially in the first years of treatment. However, the growth rate decreases over time. The change in height from the beginning to the end of the treatment was 0.76±0.64 SD, with the first quartile at 0.29 SD and the third quartile at 1.14 SD. During the treatment period, patients‘ average body mass increased by 0.37±1.35 SD, with the first quartile at -0.33 SD and the third quartile at 0.92 SD. Side effects occurred in 50 % of patients, with 40 % of patients treated with rhIGF-1 experiencing hypoglycemia during treatment. Conclusions: Treatment with rhIGF-1 is effective in treating patients with PSIGFD, causing significant improvement in growth, but requires continuous monitoring and treatment adjustment. Recommendations: Further research is necessary with larger patient cohorts to determine optimal treatment doses and intervals, as well as to evaluate the long-term effects of the treatment on patients‘ health.

Introduction Resistance to thyroid hormone beta (RTHb) is a rare genetic disorder characterized by impaired responsiveness to thyroid hormone in tissues expressing TRb. This case report explores the clinical manifestation of RTHb in a 15-year-old male presenting with acute and intensive chest pain and subsequent diagnostic challenges. Case Report At midnight, a 15-year-old male reported acute, sharp chest pain, prompting medical attention. Elevated troponin I levels initially raised concerns about myocardial infarction, but electrocardiogram and echocardiography excluded it. The patient is the third child in the family, denied chronic illnesses, and reported regular physical activity in the swimming pool. Family history revealed an older brother’s sudden cardiac death at 29 during cycling. Physical examination revealed an asthenic constitution (BMI: 16.2 kg/m2 , -2.18 SD), palpable goiter I grade, and a heart rate of 113 bpm. Holter monitoring detected 365 ventricular extrasystoles and normal arteries were determined in coronography on 1st day of investigation. A cardiac MRI excluded myocarditis on 4th investigation day. Troponin I peaked at 102.95 mg/l, decreasing to 0.09 mg/l (N !0.04). Creatine kinase MB and Lactate dehydrogenase were elevated but eventually stabilized. Coagulation parameters, including D-dimer levels, remained within normal limits. Hormonal investigation revealed elevated concentrations of circulating free thyroxine (fT4 33.99 pmol/l (N 10–19)) and free triiodothyronine (fT3 8.65 pmol/l (N 4.7–7.2)) in the presence of no suppressed thyroid stimulating hormone (TSH 2.05 mU/l (N 0.48–4.7)). Autoantibodies (TgAb, TRAb, TPOAb) were negative; catecholamines were normal. The coronary spasm and myocardial infarction with non-obstructive coronary arteries (MINOCA) related to thyrotoxicosis were considered. Methimazole 10 mg daily was initiated, which led to an increase in TSH with persistently elevated FT4 and FT3 levels A diagnosis of TSHoma was considered but brain MRI showed a normal pituitary gland. Next, RTHb was suspected, and genetic testing (Rotterdam Thyroid Centre), revealed a known R320C mutation in the thyroid hormone receptor ß gene. The treatment with thyrostatics was stopped after confirmed RTHb. The beta-blocker is used due to tachycardia up to now. Conclusion This case underscores the challenges in diagnosing thyroid hormone receptor resistance, emphasizing the importance of accessibility of genetic testing and a multidisciplinary approach for comprehensive patient care.