Hale Tuhan

Objectives: This study aimed to evaluate the clinical accuracy of automated BoneXpert (BX) vs. clinician-based Greulich-Pyle (GP) bone age (BA) assessments by comparing their respective predicted adult heights (PAH) with near-final height (NFH) in patients with congenital adrenal hyperplasia (CAH). Methods: Forty-seven patients with classic salt-wasting CAH diagnosed in the neonatal period who had reached NFH were included. Left hand-wrist radiographs obtained during the prepubertal period (6–9 years) were evaluated manually by two clinicians using the GP atlas and by the BX-GP method. PAH was calculated for both sexes using the Bayley-Pinneau (BP) method based on clinician- and BX-derived BA. PAH standard deviation scores (SDS) were compared with NFH-SDS and target height (TH)-SDS. Agreement was assessed using Bland-Altman analysis. Results: Thirty patients (63.8 %) were female. Mean ages at bone age assessment and NFH were 7.3 and 16.1 years, respectively. Mean prepubertal height-SDS was 0.0 in girls and −0.25 in boys, while NFH-SDS was −0.79 and −1.14, respectively. Mean bone age according to clinician-GP was 7.80 years in girls and 8.16 in boys, and 7.69 and 8.14 years according to BX-GP. Clinician-based PAH-SDS was −1.0 in girls and −1.18 in boys, whereas BX-based PAH-SDS was −0.86 and −1.17, respectively. BX-based PAH was closer to NFH in girls (p<0.001), with no significant difference in boys. In both sexes, PAH-SDS and NFH-SDS were significantly lower than TH-SDS (p<0.001). Conclusions: PAH calculations using the BP method based on BX-derived GP bone age readings more accurately predicted NFH in patients with CAH.

The Potential Role of LRG1 in Hepatosteatosis and Insulin Resistance in Obese Children - Journal of Clinical Research in Pediatric Endocrinology

Objectives: Central precocious puberty (CPP) and premature thelarche (PT) are two common conditions in young girls that can present with overlapping clinical features, making differential diagnosis challenging. We aim to investigate whether serum uric acid (SUA) and urinary uric acid (UUA) parameters can help differentiate CPP from PT in girls. Methods: This prospective case-control study included 40 girls diagnosed with CPP, 60 with PT, and 50 healthy controls, aged 6–8 years, evaluated between 2022 and 2024. SUA, UUA, serum creatinine (SCr), urinary creatinine (UCr) levels, urinary acid/creatinine ratios (UUA/UCr) and the fractional excretion of uric acid (FEua) were measured and compared among groups. Results: Age did not differ among groups. The CPP group had significantly higher SUA, UUA/UCr, and FEua levels than both PT and controls (all p<0.05), while no significant differences were observed between PT and controls. ROC analysis showed excellent discriminatory performance for SUA (AUC=0.969, p<0.001; cut-off 4.1 mg/dL: 90 % sensitivity, 95 % specificity), while UUA/UCr and FEua demonstrated fair-to-modest diagnostic utility (AUC=0.789 and 0.697, respectively). Conclusions: Girls with CPP had significantly higher SUA, UUA/UCr, and FEua levels compared with PT and controls. SUA showed the strongest association with CPP and may support the differential diagnosis of pubertal disorders, but further studies are needed for clinical validation.

Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia Due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency - Journal of Clinical Research in Pediatric Endocrinology

Objectives: Studies investigating the underlying genetic profile in pediatric patients diagnosed with differentiated thyroid cancer (DTC) are quite limited. This study aimed to identify genetic alterations in patients diagnosed with DTC. Methods: A total of 20 patients with confirmed DTC were included in the study; however, five were excluded due to the unavailability of thyroid tumor samples. Somatic mutation analysis of the DICER1, BRAF, KRAS, NRAS, and HRAS genes was performed using next-generation sequencing. In addition, gene fusions involving ALK, RET, PTC, ETV6, and NTRK3 were assessed using fluorescence in situ hybridization. A family screening was also conducted, and thyroid ultrasonography was performed. Fine-needle aspiration biopsy was carried out for family members when deemed necessary. Results: The mean age at diagnosis was 14.42 ± 2.88 years. Somatic mutations were identified in nine patients (60 %). The detected mutations were as follows: RET/PTC fusion (n=3), BRAF V600E (n=2), NRAS Q61R (n=1), NRAS A59D (n=1), DICER1 E1705K (n=1), and ETV6/NTRK3 fusion (n=1). No statistically significant differences in prognostic factors were observed between patients with and without somatic mutations. As part of the family screening, suspicious thyroid nodules were detected in four parents. One parent underwent hemithyroidectomy, and final pathology revealed papillary thyroid carcinoma. Conclusions: Considering the limited number of similar studies on childhood thyroid cancer, these findings provide a valuable contribution to the existing literature. In particular, the results obtained from family screening may support advancements in early diagnosis, risk stratification, and the development of targeted therapeutic approaches.

Objective: Myxedema coma (MC) is a severe and rare clinical form of hypothyroidism that causes multiple organ failure and altered consciousness. The aim of reporting this case series is to evaluate the clinical presentation, diagnostic findings, and outcomes in pediatric patients diagnosed with MC. Materials and Methods: This article presents a case series of 8 patients diagnosed with MC between January 1, 2020, and October 31, 2024, at pediatric endocrinology department of the authors’ hospital. The clinical and laboratory data of the cases were obtained from the hospital records system, and the cases were scored using the diagnostic scoring system for MC. Results: The mean age was 10.36 ± 3.56 years, with a male-to-female ratio of 1:3. Four of the patients were diagnosed with hypothyroidism upon admission with MC, while the remaining 4 had a history of hypothyroidism but presented with MC due to non-compliance with treatment. The majority of patients presented with edema, rapid weight gain, lethargy, and other symptoms of hypothyroidism. Six patients had Hashimoto’s thyroiditis, 1 had thyroid hypoplasia, and 1 had thyroid aplasia. Laboratory tests revealed severely elevated thyroid-stimulating hormone (TSH) and low free thyroxine (fT4) and free triiodothyronine (fT3) levels. Six patients had elevated CK and myoglobin levels, indicating secondary rhabdomyolysis. Following levothyroxine (LT4) therapy, significant improvements were observed in muscle strength, thyroid function, and other clinical parameters. None of the patients required intensive care, and all recovered with 100% survival rate. Conclusion: Early diagnosis and appropriate thyroid hormone replacement therapy are crucial for reversing the metabolic abnormalities and preventing life-threatening complications. This study highlights the importance of timely intervention and emphasizes the need for strict adherence to thyroid hormone therapy in children with hypothyroidism. Cite this article as: Çetin K, Donbaloğlu Z, Bahar YF, et al. A rare endocrinological emergency in children with hypothyroidism: Clinical evaluation of cases presenting with myxedema coma. Turk Arch Pediatr. 2025;60(5):474-482.

Objective: Growth hormone neurosecretory dysfunction (GH-NSD) is a rare cause of short stature. Diagnosis is established by evaluating nocturnal growth hormone secretion in patients with normal growth hormone stimulation tests. The aim of this study was to evaluate the first- and second-year treatment responses and final height in patients diagnosed with GH-NSD and treated with recombinant human growth hormone (rhGH). Materials and Methods: This retrospective study examined 500 patients treated with rhGH for short stature at a pediatric endocrinology clinic at Akdeniz University. Among them, 18 patients diagnosed with GH-NSD were included in the study. At the time of treatment initiation, parameters such as insulin-like growth factor 1 (IGF-1), growth hormone (GH) stimulation test results, mean GH level during sleep, height standard deviation score (SDS), mid-parental height (MPH), and predicted adult height (PAH) were assessed. Treatment responses during the first and second years, as well as final height data, were analyzed. Results: GH therapy improved height velocity (HV) and overall height. The mean baseline height SDS of the patients was −3.13 ± 0.36. In the first year, Δheight SDS was 0.72 ± 0.44, and in the second year, Δheight SDS was 1.00 ± 0.70. Patients who reached their final height had a mean height SDS of −1.72 ± 0.83 and Δheight SDS of 1.46 ± 0.62. A correlation was found between the baseline height SDS, PAH SDS, MPH SDS, and first-year HV. Conclusion: Patients with GH-NSD treated with rhGH respond well to treatment, achieving genetic height potential. Cite this article as: Çetiner EB, Donbaloğlu Z, Singin B, et al. Growth hormone therapy in neurosecretory dysfunction. Turk Arch Pediatr. 2025;60(3):294-300.

Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder - Journal of Clinical Research in Pediatric Endocrinology

Objectives: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor (CaSR) gene, leading to significant hypercalcemia and related complications. Case presentation: We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous CaSR mutation (c.242T>A; p.I81K). Initial laboratory findings revealed markedly elevated serum calcium levels and high parathyroid hormone levels which were compatible with primary hyperparathyroidism. After initial management, bisphosphonates were administered, resulting in the patient remaining normocalcemic for 11 months, although hyperparathyroidism persisted. Then, due to the ongoing hyperparathyroidism, cinacalcet was added and continued for nine months. Finally, a total parathyroidectomy was performed. Postoperatively, the patient developed hypoparathyroidism, necessitating long-term supplementation with calcium and calcitriol. By the last follow-up at 3 years, the patient exhibited normal growth parameters and no neurodevelopmental deficits. Conclusions: This case underscores the importance of early diagnosis and intervention in NSHPT and highlights the critical role of medical treatment, surgical management and long-term follow-up in optimising patient outcomes. Continued research is essential to enhance understanding and treatment strategies for NSHPT.