Journal of Clinical Research in Pediatric Endocrinology最新文献

Objective: Peters-Plus syndrome (PTRPLS) is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in the ß 1,3-glucosyltransferase gene (B3GLCT). To date, homozygous or compound heterozygous splicing, truncating, missense variants, and whole gene deletions have been reported in the B3GLCT gene. Our aim was to investigate the role of small copy number variations (CNVs) in this condition alongside the clinical features of the patients.

Methods: The study included eleven patients from six consanguineous families originating from the same village. Clinical exome sequencing-based CNV analysis was employed across all probands to ascertain the genetic background.

Results: Using GATK-gCNV, we identified a homozygous deletion on chromosome 13q12.3, encompassing the fifteenth exon of the B3GLCT gene. The median age at admission was 2.74 years, ranging from 2 months to 41 years. The mean standard deviation scores for height and weight at admission were -4.4±0.9 and -3.8±1.8, respectively. Ophthalmological abnormalities included corneal haze, anterior synechiae, unilateral leucoma, corneal-lenticular adhesion, glaucoma, and severe visual loss. Patients under the age of five years exhibited global developmental delay, while those older than five years demonstrated varying degrees of intellectual disability, with two exceptions exhibiting normal cognitive function.

Conclusion: Our findings highlight an important role for Next-Generation Sequencing (NGS)-based CNV analysis in improving the diagnostic accuracy in PTRPLS. CNVs represent a significant form of genomic variation and should be systematically considered in genetically unresolved Mendelian disorders. Integrating CNV detection algorithms into routine NGS diagnostic workflows has the potential to enhance the identification of pathogenic changes, ultimately facilitating a more comprehensive molecular diagnosis for affected individuals.

Cancer may occur in patients with Noonan syndrome (NS). Review of English literature revealed that myeloproliferative diseases are the most prevalent, followed by intracranial tumours. There is no genotype-phenotype relationship between germline pathogenic variants so it not possible to precisely predict cancer risk in NS, however some PTPN11 variants are exclusively detected in juvenile myelomonocytic leukemia and are not observed in other types of cancer. Among patients on growth hormone, cancer development was reported in seven patients with genetically confirmed NS, and five patients with clinically diagnosed NS. However, information on growth hormone dose, timing, and follow-up characteristics in these cases is heterogeneous. In the light of current data, especially in cases for whom growth hormone therapy is considered, the diagnosis should be genetically confirmed, and the results of genetic analysis should be compared with the cases reported in the literature. Families should be informed about possible cancer risk and in cases predisposing to juvenile myelomonocytic leukemia, early initiation of growth hormone therapy should be avoided.

Objectives: To compare the levels of problematic internet use, self-esteem, internet gaming disorder (IGD) and cyberbullying/victimization in adolescents diagnosed with obesity with a control group and to examine the relationship between these variables and self-esteem.

Methods: Adolescents with and without obesity were recruited. The relationship between the scales of Problematic Internet Use, Cyberbullying/Victimization, IGD and the Piers-Harris Self-Esteem Scale was analyzed using linear regression methods.

Results: The study included a total of 164 adolescents (115 females; 70.1%). Of these, 93 (56.7%) were diagnosed with obesity (female n=64; 68.8%). Self-esteem in adolescents diagnosed with obesity was lower compared to healthy controls (p<0.001), and problematic internet use was higher in obese individuals compared to healthy controls (p=0.011), although no difference was found between the groups in terms of IGD (p=0.494) and cyberbullying/victimization (p=0.706) levels. In obese individuals, cyber forgery (p=0.003; β=-0.103) and verbal cyberbullying victimization (p=0.032; β=-0.057), IGD withdrawal subscales (p=0.03; β=-0.084), and total scores on the cyberbullying scale (p=0.017; β=-0.289) were found to negatively affect self-esteem.

Conclusion: These findings suggest that taking measures to reduce problematic internet use, IGD, and cyberbullying/victimization in obese adolescents may be a protective measure for self-esteem and, consequently, mental health.

Objective: International guidelines recommend different approaches for the management of pediatric thyroid nodules with a finding of atypia of undetermined significance (AUS) on cytology. The American Thyroid Association (ATA) pediatric guidelines recommend surgery whereas the European Thyroid Association (ETA) guidelines recommend repeat fine-needle aspiration biopsy after six months. Our objective was to identify markers of malignancy in AUS cases and to discuss the management of pediatric AUS nodules.

Methods: Specimens from pediatric patients who underwent surgery due to AUS cytology were re-evaluated and subcategorized according to the 2023 Bethesda classification.

Results: Of the 20 cases included, 11 (55%) were histologically benign, while 9 (45%) were malignant. On the subcategorization of AUS, nuclear atypia was present in 14 patients (70%), and other atypia in 6 patients (30%). Of the cases with nuclear atypia, 64.3% were malignant (n=9), whereas no malignancy was detected in cases with other atypia (p=0.012). Among the cytopathological features, chromatin clearing, nuclear enlargement, and irregular margins were significantly associated with malignancy (p=0.035, p=0.003, and p=0.012, respectively). Adhering to ETA recommendations would delay diagnosis by at least 6 months in 45% of our malignant cases. Conversely, performing lobectomy according to ATA recommendations may lead to unnecessary surgery in 55% of our cases.

Conclusion: Based on our findings, lobectomy appears to be a more appropriate approach in AUS cases but only when nuclear atypia is present, to avoid diagnostic delay and unnecessary surgery. Guidelines should be updated according to the latest Bethesda classification.

Excessive iodine intake may trigger the Wolff-Chaikoff effect, which results in downregulation of thyroid hormone synthesis to prevent hyperthyroidism. Failure to recover euthyroidism after the Wolff-Chaikoff effect may be seen in infants, and especially premature infants, and may result in prolonged iodine-induced hypothyroidism. We describe a rare case of a preterm infant who developed severe iodinated contrast-induced hypothyroidism after the use and prolonged stasis of enteral iodinated contrast media (ICM). In addition, a systematic literature search was performed to evaluate all available data on this condition. This systematic literature search was performed in PubMed and Embase. Studies describing the effect of enteral ICM on thyroid function were considered eligible. The primary outcome was to determine the frequency of contrast-induced hypothyroidism in infants after administration of enteral ICM. The premature infant in our center developed severe iodinated contrast-induced hypothyroidism after enteral ICM. In total, only two studies met our eligibility data, reporting eight patients. Of these eight patients, four premature infants developed contrast-induced hypothyroidism after enteral administration of ICM. Data on severity, length and frequency of contrast-induced hypothyroidism after exposure to enteral ICM is very scarce. The present case-report and literature search highlights the potential severity of this iatrogenic hypothyroidism and suggests that future studies and clinical guidelines on this specific topic would be beneficial. We recommend standardized monitoring of thyroid function after exposure to enteral ICM in newborns to prevent delayed diagnosis of severe contrast-induced hypothyroidism until evidence based recommendations can be made.

Background: The skeletal abnormalities of mucopolysaccharidosis(MPS) and skeletal dysplasia(SD) may be similar and even indistinguishable. This study aims to elucidate clinical clues and overlapping features that may assist in the different diagnosis.

Materials and methods: The clinical features of patients who were first referred to endocrinology or rheumatology department for short stature or joint abnormalities were addressed and signs were examined upon different diagnosis.

Results: Three patients(I, II and III) were diagnosed with SD with overlapping and also distinguishing skeletal features compared with MPS. An atypical presentation defined in patient IV who was diagnosed with Morquio syndrome. Patients V and VI were diagnosed with MPS with early onset and typical skeletal features accompanied with additional systemic manifestations uncommon in SD.

Conclusion: In conclusion,t his study emphasizes the clinical and radiological evaluation and nuances distinctions in clinical presentations that will highlight the challenges and guide to distinguishing different diagnosis of MPS and SD in atypical presentations for achieving the accurate diagnosis.

Objective: Pubertal gynecomastia is associated with psychosocial consequences including anxiety, depression, and body image disturbances. However systematic examination of bullying experiences and their psychological correlates in adolescents with gynecomastia remains limited. This study aims to investigate peer victimization prevalence and its relationship with psychological outcomes in this vulnerable population.

Methods: This case-control study included 155 male adolescents aged 10-17 years, comprising 78 participants with gynecomastia and 77 healthy controls. Gynecomastia diagnosis and severity were assessed using clinical examination and Rohrich classification. Participants completed validated Turkish versions of the Olweus Bully/Victim Questionnaire, Rosenberg Self-Esteem Scale, and Revised Child Anxiety and Depression Scale.

Results: Adolescents with gynecomastia demonstrated significantly elevated peer victimization rates compared to controls (34.6% versus 16.9%, p=0.012), with markedly increased victim-perpetrator status (12.8% versus 1.3%, p=0.005). Gynecomastia diagnosis increased victimization risk 2.63-fold (95% CI: 1.076-6.436, p=0.034). Victimized participants exhibited elevated anxiety and depression scores across multiple symptom domains (p < 0.05). Behavioral modifications were prevalent, including altered clothing preferences (58.9%), changing room avoidance (44.8%), and swimming avoidance (41.0%).

Conclusions: Adolescents with gynecomastia experience substantially elevated peer victimization with consequential psychological impact. These findings underscore the imperative for routine bullying assessment during clinical evaluation and implementation of comprehensive psychosocial screening protocols with early intervention strategies.

Recombinant human growth hormone (GH) has been utilized for nearly four decades in the management of growth hormone deficiency (GHD); however, adherence to daily injections may be suboptimal in children. To overcome this limitation, long-acting GH analogues have been developed. Somatrogon, a once-weekly formulation and the first long-acting GH approved for use in Turkiye, is indicated for children aged ≥3 years with GHD. Clinical trials have demonstrated that adverse events are predominantly mild, with injection-site pain being the most frequently reported. Lipoatrophy associated with somatrogon therapy has been documented only once previously, rendering the present series the first to describe multiple cases. We report three pediatric patients (two males and one female; aged 7.2, 13.2, and 6.9 years, respectively) who developed localized lipoatrophy at upper-arm injection sites during somatrogon therapy. The condition emerged after 9 months in two patients and after 12 months in the third. All had a history of repeated injections at the same anatomical sites. No systemic adverse effects were observed, and growth responses remained appropriate. Treatment was continued while injection sites were rotated to the thighs and abdomen. Complete resolution of lipoatrophy was achieved within three months, with no recurrence during follow-up.

Lipoid congenital adrenal hyperplasia (LCAH) is the rarest and most severe form of congenital adrenal hyperplasia (CAH), characterized by impaired adrenal and gonadal steroidogenesis. This case series aims to present our clinical experience with five pediatric patients diagnosed with LCAH due to mutations in the Steroidogenic Acute Regulatory (STAR) gene. Clinical and laboratory data from five patients diagnosed with LCAH and followed at the Pediatric Endocrinology Clinic of Akdeniz University Faculty of Medicine Hospital between January 2020 and May 2025 were retrospectively reviewed. The patients, aged 7 days to 6 months, all exhibited a female phenotype and presented with vomiting and feeding difficulties. Three showed hyperpigmentation. Severe hyponatremia, hyperkalemia, elevated ACTH and renin activity, and low cortisol were observed. Aldosterone and 17-OHP were normal; testosterone and precursors were low. Imaging showed bilateral adrenal lipoid infiltration and hyperplasia. Karyotypes included 46,XX (n=3) and 46,XY (n=2). STAR gene mutations identified were c.505G>A, c.33del, and c.288G>T. All received hydrocortisone and fludrocortisone. All survived without morbidity. LCAH is a rare genetic disorder that can present with life-threatening adrenal insufficiency. However, as demonstrated in our cases, early diagnosis and appropriate treatment can lead to excellent outcomes.

Biallelic FKBP10 variants cause autosomal recessive osteogenesis imperfecta(OI) type XI (OI-XI) and Bruck syndrome type 1 (BS-1), both characterized by bone fragility. However, BS-1 is additionally marked by joint contractures, leading to diagnostic overlap with OI-XI. To present two FKBP10-related cases illustrating the phenotypic continuum and diagnostic challenges between BS-1 and OI-XI. Case 1, a 3.5-month-old male, had multiple fractures, progressive joint contractures, and scoliosis. Genetic testing revealed a novel homozygous FKBP10 variant, c.603T>A (p.Tyr201Ter), confirming BS-1. Case 2, a 13-day-old male, presented with recurrent fractures but no contractures or pterygium. A pathogenic homozygous FKBP10 variant, c.890_897dupTGATGGAC (p.Gly300Ter), confirmed OI-XI. Despite bisphosphonate therapy, the BS-1 case continued to experience fractures, whereas the OI-XI patient remained fracture-free with improved bone mineral density. These cases demonstrate that FKBP10-related disorders represent a phenotypic continuum rather than distinct entities. Long-term follow-up is crucial, as BS-1 features such as contractures and scoliosis may become more evident or progressive over time. Recognition of evolving phenotypes is essential for accurate diagnosis and management.