18p deletion syndrome is a rare chromosomal disorder that can present with a wide range of phenotypic features and is occasionally associated with autoimmune diseases. We report the case of a 3-year and 8-month-old girl who presented with polydipsia and polyuria and was subsequently diagnosed with type 1 diabetes mellitus (T1DM) based on clinical and laboratory findings. The patient exhibited dysmorphic facial features and developmental delay, leading to genetic testing, which revealed a 13.7 Mb deletion on the short arm of chromosome 18 (18p11.32p11.21). Over the following years, she developed additional features, including Hashimoto's thyroiditis, epilepsy, subaortic stenosis requiring surgical resection, IgA deficiency, bilateral sensorineural hearing loss, and myopia. Genetic analysis also identified the deletion of several potentially disease-modifying genes, including PTPN2, PTPRM, LPIN2, USP14, and ADCYAP1. This case highlights the potential role of genes within the 18p region in the pathogenesis of autoimmune endocrinopathies. It supports further investigation into the immunogenetic mechanisms in 18p deletion syndrome.

Familial hypertriglyceridemia (FHTG) is a rare inherited lipid disorder that may present with severe phenotypes when caused by compound heterozygous or biallelic APOA5 variants. We report a male child diagnosed at 2.5 years of age with severe hypertriglyceridemia, who exhibited serum triglyceride levels persistently above 10 mmol/L (≈ 885 mg/dl) despite adherence to a low-fat diet and pharmacotherapy including fibrates, omega-3 fatty acids, and statins. Representative triglycerides at presentation were 11.6 mmol/L (≈ 1029 mg/dl). During follow up, the patient experienced an acute abdominal pain episode with triglycerides nearing 20 mmol/L (≈ 1770 mg/dL), managed conservatively under suspicion of pancreatitisOral glucose tolerance testing showed a high-normal insulin response (peak 84.5 mIU/L, below the insulin-resistance threshold of 100-150 mIU/L), which prompted addition of metformin. Over a decade, despite normal growth and clinical well-being, biochemical control remained suboptimal. This case illustrates the clinical utility of early genetic testing in pediatric dyslipidemias and highlights limitations of traditional treatments in monogenic severe FHTG. Emerging therapies, including antisense oligonucleotides and ANGPTL3 inhibitors, may hold future promise.

Complete Androgen Insensitivity Syndrome (CAIS) is caused by mutations in the androgen receptor gene (AR), leading to androgen resistance. Early recognition is crucial for management. To evaluate clinical presentations, hormonal profiles, genetic characteristics, and decisions regarding gonadectomy in pediatric CAIS. Factors influencing gonadectomy, including malignancy risk, gonadal function, and psychological well-being were assesed. Medical records of 16 children genetically confirmed CAIS patients, aged 3 days-18 years, diagnosed between 2004 and 2024 at a tertiary referral center were retrospectively reviewed. Clinical, hormonal, genetic, and histological data were analyzed. Twelve patients (75%) were diagnosed prepubertally, most commonly due to inguinal hernia. Familial recurrence occurred in 4 cases (25%). Novel pathogenic AR variants not previously reported in public databases were identified in three patients. Prepubertal patients with hormone data (n=5) demonstrated AMH >150 pM. Pubertal patients (n=9) had markedly elevated testosterone levels [median at 1361.3 ng/dl, range 367-3460 ng/dl]. Gonadal biopsy was performed in 3 cases (19%). Gonadal preservation was recommended in 11 children (69%), while 5 (31%) underwent gonadectomy followed by estrogen replacement therapy. Most CAIS cases in this pediatric cohort were detected early through inguinal hernia or family screening. Delayed gonadectomy allowed spontaneous pubertal development and feminization. While gonadectomy results in lifelong hormone dependence and may raise identity-related concerns, surveillance-based gonadal preservation appears safe during childhood. The identification of novel AR variants expands the mutational spectrum of CAIS and highlights the need for multicenter registries and improved biomarkers to optimize individualized care.

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare metabolic bone disease with variable clinical presentation, caused by pathogenic variants in the FGF23 gene. The disease typically manifests in childhood with growth retardation and rickets symptoms, but may also be diagnosed in adolescence or adulthood with atypical symptoms. We present a 14-year and 5-month-old female patient who presented with bilateral sacral insufficiency fractures following a subtle onset without a history of trauma. Diagnostic tests revealed findings consistent with hypophosphatemic rickets and a de novo heterozygous c.526C>T (p.Arg176Trp) variant in the FGF23 gene, leading to a diagnosis of ADHR. The patient had no significant history of rickets during childhood. She had lived for approximately one year with complaints of progressive pain in the lower lumbar region, which worsened with walking and sitting, without receiving a diagnosis. Bilateral sacroiliac insufficiency fractures and hypophosphatemia were detected, and genetic analysis was performed. The patient underwent bilateral sacroiliac fracture fixation by pediatric orthopedics, and phosphate and active vitamin D (calcitriol) therapy was initiated by pediatric endocrinology. Clinical symptoms improved significantly during follow-up. Due to its genetic and clinical heterogeneity, autosomal dominant hypophosphatemic rickets (ADHR) is a disease that can cause delays in diagnosis. The number of cases reported in the literature associated with this variant is limited, and this is, to the best of our knowledge, the first report of an adolescent with ADHR diagnosed with bilateral sacral insufficiency fractures. This case is important for raising awareness of ADHR and highlighting the broad clinical spectrum of the disease. Sharing the diagnostic and treatment processes will be helpful for clinicians encountering this rare disease.

Coexistence of Type 1 diabetes mellitus (T1DM) with glucokinase maturity-onset diabetes of the young (GCK-MODY) is extremely rare. Herein, we reported a case, conducted a systematic review and summarized the other reported cases to enhance the awareness of this rare diabetes subtype. An 11-year-old boy was presented with polydipsia, polyuria, and weight loss. He was diagnosed with T1DM based on significant hyperglycemia, decreased C-peptide levels, and positive diabetes-related antibodies. Genetic testing revealed that both the patient and his father carried a heterozygous mutation in the GCK gene. Due to the coexistence of GCK-MODY, the patient experienced difficulties in glycemic control and frequent hypoglycemia during insulin therapy. The patient's father gradually reduced and discontinued insulin treatment after genetic test. In clinical practice, the possibility of overlapping diabetes types should be highly emphasized. Genetic testing should be performed to optimize treatment plans and improve patient outcomes.

The absence of newborn screening, insufficient knowledge among medical professionals, and poor treatment adherence in Congenital Adrenal Hyperplasia (CAH) in Indonesia caused late diagnosis. This study presents two decades of experience in gender assignment and diagnosis of 46,XX CAH. A cohort study was carried out at a CAH referral center in Central Java, Indonesia. Data regarding clinical outcomes, molecular analysis, and sociodemographic information were taken from medical records. Participants were grouped based on current gender, i.e., females and males. Gender at diagnosis, age at first presentation, age at first diagnosis, age at present, CAH types, virilization, puberty, birth attendant, and gender at birth decision maker significantly predict current gender identity. Among 131 individuals with 46,XX CAH, 52 (52/131) with a sex assignment incongruent with their karyotype were included. The majority (49/52) had 21-hydroxylase deficiency (21OHD), while three (5.77%) had 11 beta-hydroxylase deficiency (11OHD). Individuals assigned as males at birth (3/52) had severe virilization. A change of gender occurred in 46 of 52 patients (88.46%). Midwives were the most frequent birth attendants (24/51), while pediatricians were the major decision-makers (19/51) of sex assignment. In Indonesia, many 46,XX individuals with CAH were initially assigned as males due to late diagnosis, primarily caused by low awareness among healthcare professionals and exacerbated by limited medical resources and a lack of clear guidelines on sex assignment. Therefore, targeted education and standardized guidelines involving a multidisciplinary team are crucial to ensure appropriate sex assignment and care.

The management of type 1 diabetes (T1D) in children aims to achieve an HbA1c of <7%, a good quality of life and a life similar to that of their peers. While the HbA1c <7% target may be difficult to achieve, it is possible that national programs, quality control programs and setting team targets can achieve significant reductions in HbA1c. The records of children with T1D followed up in our department between 2020 and 2022 were analyzed. Children and their families received a comprehensive education including an 'Individual Treatment Plan', nutrition and carbohydrate counting. All HbA1c measured during follow-up were averaged for each child separately. Continuous glucose monitoring (CGM) data from the last visit was evaluated in terms of achieving CGM consensus targets. To assess the effect of CGM use and automated insulin delivery system (AID) use, subjects were divided into 3 groups as multiple dose insulin (MDI) and CGM users, non-AID pump users and AID users and evaluated. The 480 children included in the study had a mean HbA1c of 7.8±1.5% at the first visit. The median HbA1c value during the two-year follow-up was 7.1%. Of the participants, 43% had an HbA1c <7%. Evaluating cases by treatment modalities and glucose measurement methods revealed taht AID users having the lowest mean HbA1c (7±0.7%). While diabetes technologies have significantly improved T1D treatment, we believe that holistic approaches focusing on patient behaviors, comprehensive education, teamwork, written individualized treatment plans, and tighter metabolic goals are effective in achieving better glycemic outcomes.

Hypoglycaemia is one of the comorbidities that adversely affects the quality of life in patients with cystic fibrosis (CF). Isolated hypoglycaemia (IsoHypo) is poorly described in patients with CF and its aetiopathogenic significance is unclear. To investigate the etiopathogenesis of IsoHypo and the role of pancreatic insufficiency (PI) in IsoHypo in children with CF. The blood glucose, insulin, and glucagon responses of 44 patients with CF and 9 healthy controls were evaluated during a 3-hour oral glucose tolerance test. Based on the results, the patients were categorized into 5 groups: 1) normal glucose tolerance (NGT), 2) IsoHypo, 3) hypoglycaemia with abnormal glucose tolerance (Hypo+AGT), 4) AGT, and 5) CF-related diabetes. IsoHypo and NGT were sub-classified according to the presence of PI as PI(+) or PI(-). Hypoglycaemia was defined as <70 mg/dL. Hypoglycaemia was observed in 21 of 44 patients (47.7%), predominantly as IsoHypo (29.5%). Hypo+AGT was found in 8 patients (18.2%). The IsoHypo group showed undelayed and higher insulin secretion than the Hypo+AGT group, especially in IsoHypo PI(-) compared to IsoHypo PI(+). Both IsoHypo and Hypo+AGT groups exhibited an insufficient increase in glucagon at 180 minutes, with the deficiency being more pronounced in the Hypo+AGT group. Insulin and glucagon responses to oral glucose load in IsoHypo PI(+) were similar to Hypo+AGT, whereas they were less affected in IsoHypo PI(-) patients who had early and higher insulin secretion. IsoHypo is common in CF children and might precede Hypo+AGT in those with pancreatic insufficiency. The abnormal insulin and glucagon responses to glucose are the most significant contributors to the development of IsoHypo in CF.

Endocrine findings in premature adrenarche have been characterized by elevated DHEAS levels in the past. We reviewed 44 female patients, aged 4 to 8 years, with premature adrenarche who were seen at our center between 2019 and 2023. Data were collected on the traditional androgens (DHEA and DHEAS) and novel 11-oxo-androgens. 11-oxo-androgens, DHEAS, and DHEA levels were measured using Liquid chromatography/tandem mass spectrometry (LC/MS-MS) assays in commercial laboratories (Lab Corp). The majority, 89% of patients from the youngest group (4-5year olds), presented with apocrine odor as the only symptom of premature adrenarche. We have demonstrated that DHEA and DHEAS levels were within the normal range in many girls with premature adrenarche, whereas 11-oxo-androgens, particularly 11-hydroxyandrostenedione and 11β-hydroxytestosterone, were elevated. Out of those with normal DHEAS, 75 % had elevated 11-hydroxyandrostenedione, and 77.8% of those patients with normal DHEA had the same elevated oxo-adrogen. Additionally, advanced bone age greater than 1 year compared to chronological age was positively associated with 11-ketotestosterone (Spearman correlation coefficient = 0.32, 95% CI: 0.01-0.57, p=0.0429) and 11β-hydroxy testosterone (Spearman correlation coefficient=0.32, 95% CI: 0.01-0.58, p=0.0395). We propose that 11-oxoandrogens are a more sensitive steroid to be measured in premature adrenarche.

Growth hormone deficiency (GHD) in children results in short stature and impaired bone health. While daily growth hormone (GH) injections are effective, they are associated with adherence challenges. Somatrogon, a long-acting recombinant human GH, allows weekly administration, potentially improving treatment compliance. This retrospective cohort study included 39 prepubertal children with GHD treated with weekly Somatrogon at Al Jalila Children's Hospital, Dubai. Diagnosis was based on clinical, biochemical, and radiological criteria, including height standard deviation score (SDS) < -2.0, subnormal growth velocity, and subnormal peak GH in one stimulation test (<10 ng/mL) supported by low IGF-1 and/or abnormal MRI. Growth outcomes and bone health indices were assessed over 12 months using auxology, IGF-1 levels, and BoneXpert-derived Bone Health Index (BHI) SDS and Metacarpal Index (MCI) SDS. After 12 months of therapy, mean height SDS improved significantly from -2.16 ± 0.80 to -1.65 ± 0.71 (p < 0.001). IGF-1 SDS rose from -1.38 ± 1.02 to 0.88 ± 1.57 (p < 0.001). Adult predicted height and BHI SDS also improved significantly (p = 0.005 and p < 0.001, respectively). No significant changes were observed in bone age SDS or MCI SDS. Weekly Somatrogon significantly improved linear growth, IGF-1 levels, and cortical bone health without advancing bone age in children with GHD. These findings support the efficacy of long-acting GH therapy and its potential to optimize growth and skeletal outcomes in clinical practice.