Suna Hancili

Gonadotropin releasing hormone analog treatment in children with congenital adrenal hyperplasia complicated by central precocious puberty

OBJECTIVECongenital adrenal hyperplasia (CAH) can be complicated by central precocious puberty (CPP) in children, which may compromise final height. We aimed to evaluate the effect of gonadotropin-releasing hormone analog (GnRHa) therapy on growth in children with CAH.DESIGNTwelve children with CAH were enrolled in a follow-up study. Eight patients underwent the GnRH stimulation test. GnRHa-treatment was administered at 3.75 mg every 4 weeks; the dose had to be increased to 7.5 mg in three patients. Bone age, growth velocities and body mass index of the patients were monitored during treatment.RESULTSMedian chronologic age and bone age at diagnosis were 6.8 (3.5) years and 11 (1.2) years, respectively. Median follow-up was 4.4 (4.9) years. A significant difference was found in the median ratio of bone age to chronological age between diagnosis and last visit (p=0.005) and between the beginning of GnRHa treatment and last visit (p=0.004). Median growth velocity was 4 (2.5) cm, 3.4 (5.2) cm and 5.5 (5.5) cm at the end of the first, second and third years of the therapy, respectively. Second-year growth velocity was inversely correlated with median bone age at diagnosis (rho:−0.758, p=0.004) and at the initiation of therapy (rho:−0.876, p<0.001).CONCLUSIONGnRHa therapy should be considered for augmentation of linear growth and diminishment of bone age advancement in children with CAH complicated by CPP, particularly in children who do not have extremely advanced bone age for chronological age.

The GABAA Receptor γ2 Subunit (R43Q) Mutation in Febrile Seizures

BACKGROUND Febrile seizure is the most common form of childhood seizure. Although its exact cause is unclear, many researchers emphasize the importance of its genetic predisposition. Recent genetic studies revealed the importance of the mutations of the gamma-aminobutyric acid A receptor as the etiology of the febrile seizures. R43Q mutation affecting the γ2-subunit N-terminal domain has been related to childhood absence epilepsy and febrile seizure. METHODS We investigated R43Q mutations of the GABRG2 gene, located on the long arm of chromosome 5 encoding the γ2-subunit of the gamma-aminobutyric acid A receptor. We studied 44 patients with febrile seizure and 49 children without any febrile seizure who were admitted to our clinic. RESULTS We found that 36% of our patient group, the children who experienced febrile convulsions, had heterozygous R43Q mutation. Statistical studies revealed that heterozygous R43Q mutation of gamma-aminobutyric acid A receptor γ2 subunit was higher in the study group than in the control group (P < 0.01). CONCLUSIONS Heterozygous gamma-aminobutyric acid A receptor γ2 subunit (R43Q) mutation may have an effect in the development of febrile seizures.

Obesity and Increasing Rate of Infantile Blount Disease

Background. The incidence of infantile Blount disease is rising in parallel to the increasing obesity in children. Material and methods. Seven children (3 female) between the ages of 17 and 30 months (21.8 ± 4.3 months) were included in the study. Results. All patients had complaints of inward bowing of the legs and excess weight gain. The biochemical and hormonal assessments of all patients yielded normal results. Patients were diagnosed with infantile Blount disease based on clinical, laboratory, and radiological findings. Conclusion. This disease should be differentiated from physiological genu varum, and the potential psychosocial and physical complications are prevented with early diagnosis and treatment.

A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome

Neonatal diabetes mellitus (NDM) is a rare form of non‐autoimmune diabetes usually diagnosed in the first 6 months of life. Various genetic defects have been shown to cause NDM with diverse clinical presentations and variable severity. Among transcriptional factor genes associated with isolated or syndromic NDM, a few cases of homozygous mutations in the NEUROG3 gene have been reported, all mutated patients presenting with congenital malabsorptive diarrhea with or without diabetes at a variable age of onset from early life to childhood. Through a targeted next‐generation sequencing assay for monogenic diabetes genes, we aimed to search for pathogenic deleterious mutation in a Turkish patient with NDM, severe malabsorptive diarrhea, neurointestinal dysplasia and other atypical features. In this patient, we identified a novel homozygous nonsense mutation (p.Q4*) in NEUROG3. The same biallelic mutation was found in another affected family member. Of note, the study proband presents with abnormalities of the intrahepatic biliary tract, thyroid gland and central nervous system, which has never been reported before in NEUROG3 mutation carriers. Our findings extend the usually described clinical features associated with NEUROG3 deficiency in humans, and question the extent to which a complete lack of NEUROG3 expression may affect pancreas endocrine function in humans.

Symptomatic cerebral infarction in a child with severe diabetic ketoacidosis.

Abstract Background: Diabetic ketoacidosis (DKA) is a common initial presentation of pediatric type 1 diabetes mellitus. Intracerebral complications of DKA pose significant mortality and morbidity rates. Objective: Our aim is to emphasize the importance of early identification, investigation, and treatment for patients who present with DKA and stroke. Case report: Here, we report a case of a 4-year-old female patient who presented with ischemic-hemorrhagic stroke as a complication of DKA. Conclusion: Cerebrovascular complications of DKA in children are a rare condition; however, higher risks take place in their youngest age. Clinicians should be aware of these complications so as to develop appropriate approach for its management.

Bilateral galactocele in a male infant with Down syndrome and congenital hypothyroidism

Galactocele is an uncommon benign breast lesion. Its cause is unknown. Here, we report a male infant with Down syndrome and congenital hypothyroidism during the newborn period. At follow up, when he was 6 months old, bilateral mammillary swelling was detected and diagnosed as galactocele. Although thyroid hormone levels were normal, serum prolactin levels were elevated. Cyst aspiration was performed on the left side and 6 months after the aspiration of the cyst on the left side, both cysts had clinically and sonographically regressed. No recurrence was observed at the end of the 4th year.

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets

Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3.

Detection of vascular risk markers in children and adolescents with type 1 diabetes.

Abstract Objectives: Type 1 diabetes is a chronic disease that causes persistent vascular injury. This study investigates the benefits of surrogate markers in early detection of vascular injury in children and adolescents with type 1 diabetes. Methods: Eighty-four patients (35 male, 49 female) with type 1 diabetes for 5 or more years were included. Serum lipid profile, plasminogen activator inhibitor-1 (PAI-1), lipoprotein (a) (Lpa) and homocystein, were investigated. Patients were divided into two groups according to the duration of diabetes. Patients with and without microvascular complications were also compared. Results: Microvascular complications were present in 14 out of 48 patients in group-1 (29.1%; duration of diabetes: 5–10 years) and in 7 out of 36 patients in group-2 (19.4%; duration of diabetes: >10 years). Serum homocystein, Lpa, PAI-1 and serum lipids were not correlated with the duration of diabetes. Significantly increased triglyceride (TG) and HbA1C levels were associated with the presence of microvascular complications. Conclusion: Providing good glycemic control is very important for preventing vascular injury in children and adolescents with type 1 diabetes. It seems that traditional vascular surrogate markers like LDL/HDL ratio, triglycerides and HbA1C level correspond more to microvascular complications than newly defined surrogate markers that are not commonly available.