Endokrinologijos klinika (K070000)

Pirminė amenorėja yra gana reta būklė, apibūdinama menstruacijų nebuvimu mergaitėms iki 15 metų arba praėjus 3 metams nuo antrinių lytinių požymių, pavyzdžiui, krūtų vystymosi, pradžios. Ši klinikinė būklė reikalauja plataus ir sistemingo specialisto įvertinimo bei išsamios diagnostikos, nes egzistuoja daug skirtingų galimų etiologinių veiksnių. Dažniausiai nustatomos priežastys yra gonadų funkcijos sutrikimai, Mullerio latakų agenezė, konstitucinis augimo ir brendimo vėlavimas. Vis dėlto galimų priežasčių spektrą sudaro ir anatominės vystymosi anomalijos, endokrininiai sutrikimai, kiaušidžių funkcijos nepakankamumas, fiziologines būklės bei kiti veiksniai. Diagnostika grindžiama detalia anamneze, klinikiniu ištyrimu, laboratoriniais hormoninių rodiklių tyrimais ir vaizdinimo metodais. Gydymo taktika parenkama individualiai, atsižvelgiant j nustatytą priežastį. Tai gali būti gyvenimo būdo korekcija, hormoninis gydymas arba chirurginės intervencijos.

Introduction Mixed germ cell tumours (MGCTs) are rare and prone to affecting younger populations [1]. These tumours are characterised by aggressive clinical behaviour; most patients present with metastasis at initial diagnosis [2]. Case Presentation A 14-year-old male patient presented to the endocrinologist complaining of gynecomastia and a lump on the right testicle. Upon physical examination, the right testicle was found to be enlarged. Ultrasonography of the testicles revealed a heterogeneous structure similar to a benign epidermoid cyst, measuring approximately 2.3 x 1.7 cm with low echogenicity, containing calcifications, and without internal blood flow. A follow-up MRI revealed a multichambered, well-defined structure with fatty inclusions, showing no significant accumulation of contrast agent - similar to a benign epidermoid cyst, spermatocele, or other conditions. The 2,5 cm solid round tumour was removed. Histopathology analysis revealed a primary mixed germ cell tumour of the testis (immature teratoma and embryonal carcinoma), stage I pT1a, N0, M0. Right-sided orchiectomy was performed for radical tumour removal. Discussion MGCTs contain 2 or more germ cell elements. Combinations consisting of teratoma and embryonal carcinoma are more likely to occur. MGCTs with malignant transformation such as carcinomas are impending metastasize and have further aggressive potential [3]. Conclusions This case highlights the importance of considering germ cell tumour in the differential diagnosis of persistent testicular masses that mimic epidermoid cyst, spermatocele, or other cystic transformation, accentuate the importance of early recognition and precise histopathological assessment to prevent misdiagnosis and establish timely treatment.

Case Presentation The 23-year-old woman was referred to an endocrinologist for diagnosis clarification and fertility evaluation. Her medical history revealed delayed puberty and primary amenorrhea due to hypogonadotropic hypogonadism, with low follicle-stimulating hormone (FSH), low estradiol (E2), and elevated thyroid-stimulating hormone (TSH), alongside subclinical hypothyroidism. Gynecological assessment showed a hypoplastic uterus and small ovaries. Estrogen replacement therapy was initiated at 16 years of age to correct hormone deficiency and support pubertal progression, promoting breast maturation from Tanner B2P2 to B5 and onset of menses before age 18. Persistent amenorrhea was subsequently managed with cyclic estradiol and norethisterone therapy. Further evaluation confirmed a normal female 46,XX karyotype, a normal pituitary MRI, and excluded Fragile X messenger ribonucleoprotein 1 (FMR1)-related pathology. Genetic testing identified compound heterozygous variants in the gonadotropin-releasing hormone receptor (GNRHR) gene (c.416G>A and c.317A>G), confirming CHH. Estradiol and norethisterone therapy was continued under endocrinology and gynecology care Discussion CHH is a rare disorder (~1 in 10,000 births), affecting 20–25% of cases in females, and can involve pathogenic GNRHR variants (~3%), as seen in our patient [1–3]. Females present with amenorrhea and incomplete secondary sexual characteristics, with preserved growth [2]. Pubertal induction with sex hormones supports pubertal, bone and psychosocial health [4]. Infertility results from GnRH deficiency causing chronic anovulation, which can be managed with hormonal induction, pulsatile GnRH, exogenous gonadotropins, or assisted reproductive technologies such as IVF (in vitro fertilization) or ICSI (intracytoplasmic sperm injection) [1,5]. Conclusions This case highlights the importance of early diagnosis, genetic confirmation, and multidisciplinary management to optimize developmental and reproductive outcomes in CHH.

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 Sphenoid sinus mucoceles/pyoceles are uncommon but can mimic sellar tumors and present with headache, visual deficits, and pituitary dysfunction. Case Presentation A 58-year-old woman with Graves’ disease (on methimazole), hypertension, and paroxysmal atrial fibrillation presented after 4 days of progressive headache and high blood pressure (up to 162/85 mmHg). Head computed tomography (CT) showed a 4.4 × 2.8 × 3.0 cm sellar/parasellar mass with bony remodeling, suspicious for a pituitary macroadenoma. On admission, endocrine testing revealed secondary adrenal insufficiency and hydrocortisone was started. Two days later, neuro-ophthalmologic examination and visual field testing were normal, but after another two days she developed acute left visual impairment with mydriasis. Sellar magnetic resonance imaging (MRI) demonstrated a 3.9 × 4.7 × 3.1 cm T1-hyperintense expansile lesion arising from the left sphenoid sinus with bony dehiscence, sellar displacement, and optic canal narrowing; no pituitary adenoma was seen. After review by ear, nose and throat specialists (ENT) and neurosurgeons, urgent endoscopic endonasal sphenoidectomy with drainage of purulent material was performed the following day, followed by antibiotics and steroid coverage. The patient stabilized and was discharged with scheduled follow-up in otorhinolaryngology and endocrinology. Discussion This case highlights a key diagnostic pitfall: a giant sphenoid sinus pyocele can clinically and radiologically mimic a pituitary macroadenoma, causing headache, apparent sellar mass effect on CT, and even optic pathway compromise. Importantly, mucoceles may also produce pituitary stalk/sellar compression, leading to hypopituitarism. MRI is critical to identify the true sinus origin, distinguish pituitary displacement from a pituitary tumor, and guide urgent endoscopic decompression. Conclusions Sphenoid sinus mucoceles/pyoceles should be included in the differential diagnosis of sellar masses. They may cause pituitary dysfunction, including secondary adrenal insufficiency, so endocrine evaluation and timely steroid replacement are essential. MRI confirmation of lesion origin and prompt endoscopic decompression are key to preventing irreversible visual and endocrine complications.

Įvadas. Tulžies pūslės akmenys (lot. cholelithiasis) yra viena dažniausių virškinimo trakto disfunkcijos priežasčių pasaulyje [1]. [...].

Ūminis, lėtinis ir pasikartojantis tonzilitas vis dar yra aktuali ir reikšminga sveikatos problema, daranti įtaką paciento gyvenimo kokybei, bendrai savijautai, darbingumui ar mokyklos / darželio lankomumui. [...].

Feochromocitomos (FEO) ir paragangliomos (PG) yra reti katecholaminus (epinefriną, norapinefriną ar dopaminą) produkuojantys neuroendokrininiai navikai. Apie 80-85% (2-8 atvejai 1 mln. gyventojų) šių navikų kyla iš antinksčių šerdies ir vadinami feochromocitomomis, o 15- 20% atvejų (0,5 atvejo 1 mln. gyventojų) sudaro paragangliomos, kurios vystosi iš ekstraadrenalinių paraganglijų ląstelių. FEO/PG dažnis sergant hipertenzija siekia 0,2-0,6%, o tarp tų, kuriems išsivysčiusi antinksčių incidentalioma, - iki 5%. Apie 30% atvejų esant FEO/PG nustatomos susijusios genetinės mutacijos. Pastarąjį šimtmetį, pradėjus plačiau naudoti instrumentinius tyrimus, vis daugiau FEO/PG atvejų diagnozuojama atsitiktinai (apie 60% FEO diagnozuojama kaip antinksčių incidentaliomos), o laiku taikytas tokių pacientų gydymas (savalaikis naviko pašalinimas su priešoperaciniu paruošimu) leidžia išvengti komplikacijų. Nors dauguma FEO yra gerybinės, apie 10-15% jų gali būti piktybinės ir išplisti į kitas kūno dalis. Navikų išskiriami katecholaminai gali sukelti lėtinę arba paroksizminę arterinę hipertenziją, kardiomiopatijas ir kitų organų pažeidimus, o ūmus katecholaminų išsiskyrimas, kurį išprovokuoti gali intervencinės diagnostinės procedūros, anestezija, intubacija ar chirurginė stimuliacija, vartojami vaistai (beta adrenoblokatoriai (BAB), tricikliai antidepresantai, kortikosteroidai, metoklopramidas), fizinis krūvis, maistas, turintis tiramino (kava, šokoladas, raudonas vynas, sūris), gali sukelti hipertenzinę krizę su miokardo išemija, aritmijomis, cerebrovaskulinėmis komplikacijomis ar dauginiu organų funkcijų nepakankamumu. [...].

Introduction Bone loss in younger gynecologic cancer survivors occurs prematurely, sometimes decades before routine age-based osteoporosis screening in the general population. Data regarding bone loss management in this group of patients are generally lacking, especially in ovarian cancer survivors. Case A 31-year-old female was referred to an endocrinologist regarding the treatment strategy for osteoporosis. The medical history was clarified: in 2014, she was diagnosed with stage 3 ovarian cancer (G1 serous carcinoma). Laparotomy, total hysterectomy with adnexectomy, omentectomy, peritonectomy in the minor pelvic region and diaphragm, and paraaortic lymphadenectomy were performed, followed by six cycles of Paclitaxel/Carboplatin chemotherapy in the same year. Due to a BRCA2 gene mutation revealed by genetic testing, the usual choice of hormone replacement therapy (HRT) was not applied. She was monitored for oncologic recurrence and osteoporosis development. The patient was regularly followed up by the endocrinologist, with observation of Ca-P metabolism tests, bone markers (BAP, CTX), and DXA changes. DXA results presented progression from osteopenia in 2015 (spine: T-1,22; 1,033 g/cm2) to osteoporosis in 2023 (T-3,6; 0,741 g/cm2). The patient was discussed in the Reproductive Health MDT: there are no clear contraindications for prescribing HRT in the presence of a previous oncological disease and the BRCA2 gene mutation. The BRCA2 gene mutation increases the risk of breast cancer in postmenopausal women; however, there is no data indicating an increased risk at a younger age. At this stage, was recommended to prescribe HRT for at least one year, and if osteoporosis continues to progress or osteoporotic fractures occur earlier, bisphosphonates should be prescribed. Conclusion This case highlights the challenging management of osteoporosis in young cancer survivor and the necessity of MDT when facing a clinical situation with no strong clinical evidence and treatment guidelines.

Introduction Calcitonin (CT) is essential for diagnosing medullary thyroid carcinoma (MTC), with levels O100 pg/ml being highly predictive, though elevated CT is not a pathognomonic factor of MTC. Hypercalcitoninemia has also been linked to conditions like hypercalcemia, hypergastrinemia, renal insufficiency, neuroendocrine tumors, other thyroid carcinomas, prolonged use of certain medications. Chronic autoimmune thyroiditis (AIT) may elevate CT, but its impact on hypercalcitoninemia is unclear. Investigating slightly elevated CT is important for determining treatment, whether monitoring thyroid-related disorders, addressing malignancies or benign conditions like AIT. Case A 22-year-old female (BMI 40.9) visited an endocrinologist due to hypercalcitoninemia found after detailed laboratory blood tests performed at the patient’s initiative. Family history: thyroid disease, diabetes. In 2023, neck ultrasound showed normal-sized hypoechogenic thyroid with heterogeneous structure, connective tissue degeneration, normal blood flow. No pathological lymph nodes were observed. Both in 2023 and 2025 performed neck ultrasound suggested AIT. In 2025, the patient’s thyroid fulfilled EU-TIRADS 2 criteria. Laboratory tests showed fluctuating CT levels from year 2023 to 2025 from 7.02 to 30.07 pg/ml (n. r.!5.89, Table 1). Following tests were within reference ranges: TSH, FT4, FT3, anti-TPO, anti-Tg, anti-TSRH, CEA. Due to low vitamin D (35.5 nmol/l, n. r.125-150), vitamin D3 was taken at 8000 IU/day for 3 months, then reduced to 4000 IU/day permanently. Since anti-TPO and anti-Tg antibodies were within normal limits, elevated CT cannot be linked to AIT. With no clinical signs of thyroid dysfunction, no treatment was prescribed. Blood calcium level, other electrolytes examined were within normal limits. No changes were observed on chest X-ray and abdominal ultrasound. Tests for adrenal conditions detected no pathology. Consequently, other endocrinological causes of hypercalcitoninemia were excluded. Currently, the patient is diagnosed with non-toxic multinodular goiter. Check-up is recommended after 6 months. Discussion This case emphasizes the need to consider both common and rare causes and conduct a thorough evaluation when managing hypercalcitoninemia. Elevated CT levels should be assessed within the full clinical context. An aggressive approach may be unnecessary in patients with marginal increase in CT levels after excluding causes of hypercalcitoninemia demanding specific treatment. Adequate follow-up with serum CT measurement and thyroid ultrasound can prevent missing clinically significant MTC.