Preikša, Romualdas Tomas

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.

Algoritmas (lot. algorismus

Introduction: Noonan syndrome-like syndrome with loose anagen hair (NSLH) is a RASopathy due to a missense mutation in the SHOCK2 gene. NSLH is distinguished by facial dysmorphisms, growth retardation, various neurocognitive impairment, and cardiac defects. Extremely short stature is frequently observed in patients with SHOC2 gene mutation. Treatment by growth hormone (GH) due to moderate GH deficiency or IGF-1 due to GH insensitivity may be insufficient. We report on a genetically diagnosed NSLH patient manifesting severe short stature with refractory treatment with GH and mecasermin. Case Report: The presented case is a girl born 3rd in a family of healthy parents (target height -1.15 SD) at 37 gestation weeks. The birth weight was 3474 g (1.0 SD), length – 48 cm (-0.83 SD). An atrial septal defect was diagnosed at birth. Karyotype was 46, XX. At the first endocrinologist evaluation at 12 months: a length of 64 cm (-3.68 SD), a weight of 6.5 kg (-3.86 SD), and continuous growth retardation were observed, and evaluation was performed at the 3 yr. age: IGF-1 7.5 nmol/L (<-2 SD), normal thyroid function, and retarded bone age (-1 y.). Hypopituitarism was diagnosed and treatment with recombinant human GH (rhGH) was started after GH stimulation tests: GH peaks were 9.51 mU/L and 16.45 mU/L. Height at the beginning (4 yr. of age) of rhGH treatment was 86 cm (-4.61 SD). According to physical examination and dysplastic features, the genetic syndrome was suspected, and NSLH was diagnosed at 11 yr. Due to poor response to rhGH, treatment stopped at the 12 yr. (height 117.4 cm (-4.36 SD)). During treatment with rhGH, the IGF-1 concentrations remained low, severe primary IGF-1 deficiency was diagnosed, and treatment with mecasermin was prescribed with increasing doses 40–120 µg/kg twice daily for 3 years. Height at the beginning (13 yr.) of rhIGF-1 treatment was 124 cm (-5.18 SD). Nevertheless treatment, her growth velocity was between 2.25–4.25 cm/yr. At 16 yr., the treatment was discontinued achieving a height of 132 cm (-5.25 SD). Conclusion: In this case, we present a poor treatment efficiency of rhGH and IGF-1 for the patient with NSLH affected due to SCHOC2 mutation. The deepest literature review of NSLH and treatment outcomes for growth is needed to compose the genotype-phenotype relationship and treatment response in NSLH.

Introduction: Androgen insensitivity syndrome rare X linked disorder that is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. Complete androgen insensitivity syndrome (CAIS) usually is recognized only at the teenage age due to primary amenorrhea. Recently, gonadectomy for patients with CAIS are postponed due to a mild risk of malignancy. Case report: This report refers 15.3-year-old patient, assigned as female, who presents with primary amenorrhea. Physical examination observed the female appearance and normal external genitalia with a 4 cm length of vagina, puberty maturation was evaluated B4P1-2 (by Tanner stage). Laboratory examination showed high levels of testosterone and anti-Müllerian hormone, and normal levels of gonadotropins and estradiol; the uterus was absent but observed bilateral solid formations in the pelvic MRI. Chromosome analysis confirmed a 46,XY karyotype. Sanger sequencing of AR (NM_000044.6) gene from blood leukocytes DNA was performed and a novel hemizygous likely pathogenic variant c.232_241del p. (Gln78ArgfsTer94) was detected. This variant also confirmed in the testicular tissue DNA. The diagnostic laparoscopy was performed, and histological analysis of the bilateral gonads showed the immature testis tissue with Sertoli and Leydig’s cells. During laparoscopy, also open processus vaginalis was found. Contralateral inguinal hernia was operated on in infant age. The CAIS was confirmed. Gender was assigned as female, but gonadectomy was postponed and hormonal therapy by estrogen did not initiate due to normal level of estrogen and bone mineral density (BMD). Conclusions: Historically, the gonadectomy for individuals with CAIS was performed after conforming diagnosis at various ages to avert the risk of gonadal malignancy. Recently, gonadectomy is postponed until early adulthood age (25–30 y.o.). Postponed gonadectomy prevents postsurgical hypogonadism which might have negative effects on cardiovascular health and BMD [1].

Importance: Continuous glucose monitoring (CGM) devices have demonstrated efficacy in adults and more recently in youths and older adults with type 1 diabetes. In adults with type 1 diabetes, the use of real-time CGM compared with intermittently scanned CGM was associated with improved glycemic control, but there are limited data available for youths. Objective: To assess real-world data on achievement of time in range clinical targets associated with different treatment modalities in youths with type 1 diabetes. Design, setting, and participants: This multinational cohort study included children, adolescents, and young adults younger than 21 years (hereinafter referred to collectively as youths) with type 1 diabetes for a duration of at least 6 months who provided CGM data between January 1, 2016, and December 31, 2021. Participants were enrolled from the international Better Control in Pediatric and Adolescent Diabetes: Working to Create Centers of Reference (SWEET) registry. Data from 21 countries were included. Participants were divided into 4 treatment modalities: intermittently scanned CGM with or without insulin pump use and real-time CGM with or without insulin pump use. Exposures: Type 1 diabetes and the use of CGM with or without an insulin pump. Main outcomes and measures: Proportion of individuals in each treatment modality group achieving recommended CGM clinical targets. Results: Among the 5219 participants (2714 [52.0%] male; median age, 14.4 [IQR, 11.2-17.1] years), median duration of diabetes was 5.2 (IQR, 2.7-8.7) years and median hemoglobin A1c level was 7.4% (IQR, 6.8%-8.0%). Treatment modality was associated with the proportion of individuals achieving recommended clinical targets. Adjusted for sex, age, diabetes duration, and body mass index standard deviation score, the proportion achieving the recommended greater than 70% time in range target was highest with real-time CGM plus insulin pump use (36.2% [95% CI, 33.9%-38.4%]), followed by real-time CGM plus injection use (20.9% [95% CI, 18.0%-24.1%]), intermittently scanned CGM plus injection use (12.5% [95% CI, 10.7%-14.4%]), and intermittently scanned CGM plus insulin pump use (11.3% [95% CI, 9.2%-13.8%]) (P < .001). Similar trends were observed for less than 25% time above (real-time CGM plus insulin pump, 32.5% [95% CI, 30.4%-34.7%]; intermittently scanned CGM plus insulin pump, 12.8% [95% CI, 10.6%-15.4%]; P < .001) and less than 4% time below range target (real-time CGM plus insulin pump, 73.1% [95% CI, 71.1%-75.0%]; intermittently scanned CGM plus insulin pump, 47.6% [95% CI, 44.1%-51.1%]; P < .001). Adjusted time in range was highest among real-time CGM plus insulin pump users (64.7% [95% CI, 62.6%-66.7%]). Treatment modality was associated with the proportion of participants experiencing severe hypoglycemia and diabetic ketoacidosis events. Conclusions and relevance: In this multinational cohort study of youths with type 1 diabetes, concurrent use of real-time CGM and an insulin pump was associated with increased probability of achieving recommended clinical targets and time in range target as well as lower probability of severe adverse events compared with other treatment modalities.

„Endokrinologija. II dalis. Cukrinis diabetas“ – vadovėlis, kuriame specialistai pateikia išsamią ir aktualią informaciją apie vaikų ir suaugusiųjų endokrininę sistemą bei jos sutrikimus. Knygoje aptariama endokrininė reguliacija, kuri yra bene svarbiausia endokrininės sistemos funkcija, žinomiausias medžiagų apykaitos sutrikimas – cukrinis diabetas, nurodomos ir analizuojamos hipofizės, antinksčių, skydliaukės, reprodukcinės sistemos ligos, kalcio apykaitos ir lyties vystymosi sutrikimai. Gvildenamos aktualios augimo ir brendimo, nutukimo, hipoglikemijos bei hiponatremijos temos. Taip pat aptariami neuroendokrininiai navikai, priklausantys retų ir nevienalyčių navikų grupei, bei dinaminiai mėginiai endokrininių ligų diagnostikoje. „Endokrinologija. II dalis. Cukrinis diabetas“ – būtina priemonė endokrinologams, endokrininės sistemos chirurgams, ginekologams, pediatrams ir kitiems gydytojams, kuriems reikalinga išsami informacija apie šią daugialypę sritį.

„Endokrinologija. I dalis. Bendroji endokrinologija“ – vadovėlis, kuriame specialistai pateikia išsamią ir aktualią informaciją apie vaikų ir suaugusiųjų endokrininę sistemą bei jos sutrikimus. Knygoje aptariama endokrininė reguliacija, kuri yra bene svarbiausia endokrininės sistemos funkcija, žinomiausias medžiagų apykaitos sutrikimas – cukrinis diabetas, nurodomos ir analizuojamos hipofizės, antinksčių, skydliaukės, reprodukcinės sistemos ligos, kalcio apykaitos ir lyties vystymosi sutrikimai. Gvildenamos aktualios augimo ir brendimo, nutukimo, hipoglikemijos bei hiponatremijos temos. Taip pat aptariami neuroendokrininiai navikai, priklausantys retų ir nevienalyčių navikų grupei, bei dinaminiai mėginiai endokrininių ligų diagnostikoje. „Endokrinologija. I dalis. Bendroji endokrinologija“ – būtina priemonė endokrinologams, endokrininės sistemos chirurgams, ginekologams, pediatrams ir kitiems gydytojams, kuriems reikalinga išsami informacija apie šią daugialypę sritį.

Sporte rungčių skirstymas į vyrų ir moterų kategorijas yra plačiai priimta praktika. Vyrų ir moterų sportinių pasiekimų skirtumai reikalauja, kad sporto organizacijos visiems besivaržantiems atletams nubrėžtų tarp lyčių teisingas ir sąžiningas ribas. Istoriškai kaip lyties patikros metodas iš pradžių buvo taikyta apžiūra, vėliau lytinio chromatinio tikrinimas, Y chromosomos (SRY) patikra. Stokholmo (2003) gairėse dėl lyties keitimo nurodoma, kad translytės moterys (♂♀) gali varžytis kaip moterys, jei išpildomos šios sąlygos: atlikta lyties keitimo operacija, įskaitant gonadektomiją, yra teisinis lyties patvirtinimo dokumentas, taikoma atitinkama nustatytai lyčiai hormonoterapija, tinkamumas įsigali ne anksčiau kaip praėjus 2 metams po gonadoektomijos. Pagal 2015 m. TOK gaires, kiekvienas atvejis dėl ♂♀ lyties keitimo ir hiperandrogenizmo turi būti vertinamas patyrusių specialistų grupės. Iki šiol tyrimais nėra įrodyta, kad transseksualūs asmenys (tiek vyrai, tiek moterys) turėtų persvaros sporte bet kuriuo lyties keitimo (operacijos ar hormonoterapijos) etapu, todėl strategija, iki šiol dar vis ribojanti transseksualių asmenų dalyvavimą sporto varžybose, turėtų būti peržiūrėta ir keičiama.