ACTA ENDOCRINOLOGICA (BUC)

Introduction. Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that typically presents in childhood and involves multiple organ systems. Turner syndrome (TS) is a chromosomal condition resulting from complete or partial loss of one X chromosome. Both disorders can independently cause short stature and pubertal delay. Case Report. We present a 9-year-old girl diagnosed with NF1 at age 6, based on widespread café-aulait macules and a positive family history. She was referred to our pediatric endocrinology clinic for evaluation of severe short stature. Physical examination revealed TS stigmata, including height SDS: -4.07, cubitus valgus, webbed neck, low posterior hairline, and widely spaced nipples. Karyotype analysis confirmed mosaic TS: 45,X[12]/46,X,del(X) (p11.2)[18]. Cranial magnetic resonance imaging revealed hamartomatous lesions, an empty sella, and an optic pathway glioma, for which she had received chemotherapy. Laboratory findings were consistent with hypergonadotropic hypogonadism. Estrogen replacement therapy was initiated; however, recombinant human growth hormone treatment was declined by the family after counseling. Conclusions. This co-occurrence is exceedingly rare, with only a few pediatric cases having been reported in the literature. This dual diagnosis poses diagnostic and therapeutic challenges and necessitates a personalized approach to growth assessment, pubertal induction, and long-term tumor surveillance in pediatric endocrine care.

Objective. This study aims to determine the frequency and prognostic significance of lactic acidosis in children with diabetic ketoacidosis (DKA) admitted to the pediatric intensive care unit. Methods. The study was carried out retrospectively by examining the patients admitted to the pediatric intensive care unit for the treatment of DKA. The ages of the patients ranged from 2 to 18 years. The patients with the following parameters were enrolled in the study: serum blood glucose>200 mg/dL, ketonuria presence, venous blood gas pH ≤7.1, bicarbonate <15. Results. A total of 56 patients were included in the study with a mean age of 111.07 ± 51.13 months. The recovery time from DKA was 16.05 ± 6.25 h in the group with low lactate level and it was 13.57 ± 8.34 h in the group with high lactate level with no statistically significant difference. There was a negative correlation between lactate levels and the recovery time from DKA. Conclusion. Lactic acidosis is common in DKA, and unlike other conditions, such as sepsis, it is not always a finding of poor prognosis that predicts the severity of the disease or mortality. We think that high lactate may even protect against possible brain edema-cerebral damage in DKA.

Context. The links between obesity and thyroid function or thyroid volume in children are still controversial with limited available data. Objective. This study aimed to examine thyroid function and volume in obese Turkish school-age children in comparison to normal-weight children. Design. Cross-sectional study. Subjects and Methods. One hundred obese children (47 boys, 53 girls; mean age 10.34±2.79 years) with a body mass index (BMI) above 95th percentile, and 100 normal-weight children (42 boys, 58 girls; 10.34±2.79 years) were included. The study parameters were BMI z score (Z-BMI), body surface area (BSA), thyroid volume, free thyroxine (fT4) and thyroid stimulating hormone (TSH) levels. Results. The mean TSH and fT4 levels did not show a significant difference between obese and normal-weight children (p>0.05). The mean thyroid volume was higher in obese children (6.46±5.84 and 4.64±1.44, respectively; p=0.043). fT4 correlated negatively with Z-BMI in both normal-weight and obese children (r=-0.285, p=0.004 and r=-0.289, p=0.004, respectively). Thyroid volume, on the other hand, correlated positively with Z-BMI, again in both normal-weight and obese children (r=0.657, p<0.001 and r=0.444, p<0.001, respectively). Similar associations were found for BSA. Conclusions. Thyroid volume correlated positively and fT4 correlated negatively with Z-BMI and BSA, in both obese and normal-weight school-age children, whereas TSH appears to be independent of these parameters.

Objectives. Turner Syndrome (TS) is associated with a high risk of cardiac anomalies and cardiovascular disease. We aimed to evaluate patients with TS (n=33) for cardiac and aortic pathology using thorax magnetic resonance angiography (MRA). Subjects and methods. Clinical findings, karyotypes, echocardiogram (ECHO) findings and thorax MRA results were evaluated. Aortic dimensions were measured and standard Z scores of aortic diameters along with aortic size index (ASI) were calculated. Results. Mean age of the patients was 13.7±3.4 years. MRA revealed cardiovascular pathology in 10 patients (30%). CoA (n=4), aberrant right subclavian artery (n=3), dilatation of the ascending aorta (n=1), tortuosity of the descending aorta (n=1) and fusiform dilatation of the left subclavian artery (n=1) were found. Two of the four patients with CoA found on MRA were detected with ECHO. Mean diameter of the sinotubular junction was found to be elevated [mean±SD: 2.4±1.5]. Z scores for the diameters of the isthmus, ascending aorta and descending aorta were in normal ranges. 45,X patients were found to have significantly higher ASI values than non 45,X patients (p=0.036). Conclusion. Our findings indicate that patients with TS should be evaluated with MR imaging studies in addition to ECHO to reveal additional subtle cardiac and vascular anomalies. CoA which is very distally located or which has mild nature may not be seen by ECHO. The increase in ASI observed in 45,X patients may herald the development of life-threatening complications. Therefore, frequent followup is warranted in these patients.

Context/Objective. The standard approach is to perform repeat FNAB (rFNAB) in thyroid nodules with nondiagnostic (ND) / insufficient (UNS) cytology. However, due to the nature of these nodules, recurrent FNABs may also be insufficient. Therefore, by comparing the clinicalradiological- pathological parameters of nodules with a definite diagnosis of excision, we questioned the possibility of patient management without rFNAB. Methods. Clinical-radiological parameters of 275 nodules belonging to 264 patients in the ND/UNS aspiration group with definite pathological diagnosis after surgery were determined. Under the guidance of these parameters, those with and without rFNAB were compared. Results. The incidence of malignancy was found to be significantly higher in nodules without rFNAB compared to nodules with rFNAB (p = 0.036). In addition, the incidence of malignancy in BC-1 nodules without rFNAB was significantly higher than in nodules with rFNAB result also BC-1 (p = 0.009). In all cases, nodule size smaller than 10 mm and border irregularity were found to be statistically significant for malignancy (p <0.020, p <0.002). When looking at the distribution of rFNAB results, a significant correlation was observed with female gender, solid component, hypoechogenicity, border irregularity and halo loss around the nodule in patients with BC-4,5,6 cytology results (respectively, 0.005 / 0.031 / 0.001 / 0.012 / 0.004). Conclusion. rFNAB did not show the expected effect in ND / UNS nodules. We recommend direct surgical excision without rFNAB for nodules with border irregularity, solid structure, halo loss and hypoechogenicity, which should be considered more important in female patients.

Introduction. Congenital hypothyroidism (CH) is a prevalent cause of intellectual disability, preventable with early detection and treatment. Levothyroxine (LT4) is the standard treatment, but its efficacy can be compromised by drug interactions. Case Description. We present an 18-day-old boy diagnosed with CH, who exhibited elevated thyroidstimulating hormone (TSH) levels despite LT4 treatment. Upon increasing the LT4 dose and observing persistent TSH elevation, further investigation revealed the concurrent use of simethicone-containing colic drops. Literature suggests that simethicone can interfere with LT4 absorption. The colic drops were discontinued, leading to normalized TSH levels. Additionally, macro-TSH, indicated by a polyethylene glycol (PEG) precipitation test, was considered to contribute to the elevated TSH levels. Discussion. This case underscores the necessity of thorough medication history reviews in patients with CH. Drug interactions, such as those with simethicone, can significantly impact LT4 efficacy. Moreover, the presence of macro-TSH should be considered when TSH levels are disproportionately elevated. Conclusion. Clinicians should be vigilant about over-the-counter medication use and potential interactions in managing CH. Comprehensive patient history and careful monitoring are critical to optimizing treatment outcomes.

Background. Null cell adenoma (NCA) of the pituitary gland, once considered a distinct subtype of nonfunctioning pituitary tumors, has been substantially redefined with the advent of transcription factor (TF) immunostaining. The updated WHO classifications emphasize cell lineage differentiation, significantly narrowing the true spectrum of NCAs. Objective. To underscore the diagnostic challenges and potential misclassification of NCAs by presenting two illustrative cases and reviewing the evolving diagnostic approach. Methods. We describe two diagnostically complex cases initially classified as NCAs due to negative anterior pituitary hormone and TF immunostaining. Both demonstrated atypical clinical features, such as rapid progression and elevated Ki-67 indices, prompting further pathological reassessment. Results. In the first case, follow-up surgeries and additional immunohistochemistry revealed a posterior pituitary tumor—spindle cell oncocytoma. In the second, reevaluation identified hepatocellular carcinoma (HCC) metastasis to the pituitary. These findings highlight the necessity of considering posterior pituitary tumors and metastases in the differential diagnosis of NCAs, especially when clinical or imaging findings suggest alternative etiologies. Conclusion. NCAs must be regarded as a diagnosis of exclusion. Accurate classification depends on thorough clinicopathological correlation, multidisciplinary collaboration, and the use of expanded immunohistochemical panels. Recognition of rare mimickers is crucial for guiding appropriate treatment and improving outcomes.

Context. DEXA is recommended for osteoporosis screening. However, the rate of screening with DEXA is very low. Therefore, methods that can be used more easily and cost effectively are needed. Objective. The objective of this study is to develop a clinical risk assessment tool of osteoporosis (OSTEORISKAPP) by using syndromic approach. Design. A methodological study was performed. Subjects and Methods. Three hundred and fiftysix participants who are above 50 years old are participants of study and take history and physical examination. Positive likelihood ratio (LR), pre and post test probability, is calculated. A logistic regression analysis and a ROC analysis are made with the model constructed by those criteria. Results. Eighteen different clinical risk indices are diagnosed. According to LR, 4 of these criteria are minimally effective, 11 of them are weakly effective and 3 of them are medium effective criteria According to results of logistic regression analysis, back pain, waist pain, and usage of cortisone for more than 3 months, vertebra tenderness in physical examination, having dorsal kyphosis and being obese are turned out to be statistically significant in 89.9% confidence interval. AUC is found to be 0.948 and diagnostic test is found to have perfect distinction ability. Conclusion. Syndromic diagnostic criteria that will be used for osteoporosis screening of population and that is cost effective, no need to refer, practical, reliable and has tried to be developed.

Objectives. The aim of this study was to evaluate serum levels of interleukin (IL)-8 in pre- and postmenopausal women and in patients with surgically-induced menopause, and the relationship between IL-8 and vasomotor symptoms. Material and Method. 175 women were enrolled and were divided into 5 groups (I – Fertile women; II – Pre- and perimenopausal women; III – Postmenopausal women; IV – Surgically-induced menopause; V – Chronic inflammation). Multiplex cytokine kits were used to evaluate serum levels of interleukin-8. We determined the serum levels of the follicle stimulating hormone, of the luteinizing hormone, 17β-estradiol, progesterone, dehydroepiandrosterone and dehydroepiandrosterone sulfate using sandwich ELISA. The severity of the vasomotor symptoms was evaluated according to FDA guidelines. Results. Serum concentration of IL-8 in women with natural menopause (233.0±226.5 pg/ml; p<0.001) and in women with surgically-induced menopause (148.0±162.0 pg/ml; p=0.045) is significantly higher than in women of reproductive age (84.88±82.32 pg/ml). Serum levels of IL-8 in premenopausal women, postmenopausal women, and in women with surgically-induced menopause, respectively, with severe and moderate hot flashes, on one hand (174.8±90.94 pg/ml, 369.3±194.2 pg/ml, respectively 274.1±146.3 pg/ml), is significantly higher than in women without vasomotor symptoms or with mild hot flashes, on the other hand (19.97±22.15 pg/ml, 28.66±35.72 pg/ml, respectively 28.94±37.68 pg/ml; p<0.001). Serum levels of IL-8 are significantly higher in women of reproductive age with chronic inflammatory pathology (152.3±121.0 pg/ml) than in women without such pathology (84.88±82.32 pg/ml; p=0.02). Conclusions. IL-8 is significantly higher in postmenopausal women with vasomotor symptoms than in women without vasomotor symptoms. In the postmenopausal group, the serum levels of IL-8 are similar to those in women with chronic inflammatory pathology. IL-8 could be a key factor in occurrence of hot flashes in menopause and could be associated with peripheral vasodilatation in these women.

Paragangliomas are rare neuroendocrine slowgrowing tumors, often asymptomatic, that originate from embryonic neural crest cell. In the head and neck area, the most common location is the carotid body, followed, with decreasing frequency, in jugular, tympanic and vagal sites. Bilateral carotid body tumors are extremely rare. Aim. To present the most important features of carotid body paragangliomas, illustrating the clinical characteristics, associated with a thorough analysis of the diagnostic imaging elements, but also the current therapeutic strategies, with respective anatomical, surgical considerations and potential complications that can occur. Surgical resection is the main line of treatment. The complex anatomy of the cervical region and the close relationships of carotid body paragangliomas with carotid vessels and cranial nerves, as well as its intense vascularization makes the surgical intervention a real challenge even for an experienced surgeon. Discussion. Starts from a bilateral carotid paraganglioma in a 35-year-old male, with painless lateral neck swelling, accidentally discovered by his barber about two years ago. Diagnosis was suspected on the basis of history, clinical and radiological findings. “Wait and scan” strategy plus endocrinologic assessment for MEN syndromes were considered the optimal therapeutic approach in this case.