Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A gene. In the majority of KS patients who present with hypoglycemia, KDM6A is the defective gene. A 9-month old girl was admitted to our emergency department due to a seizure. On physical examination, hypotonia, mild facial dysmorphism, brachydactyly of the 5 th finger, prominent finger pads and pansystolic murmur were detected. A fasting glucose tolerance test was performed the next day due to her history of hypoglycemia, but she had convulsions at the fifth hour of the test. Her serum glucose was 24 mg/dL, insulin 1.94 mIU/L, C-peptide 0.94 ng/mL, growth hormone 11 ng/mL, anti-insulin antibody 4.2 IU/mL, cortisol 19.8 μg/dL, and adrenocorticotropic hormone 9.3 pg/mL. A diagnosis of hyperinsulinemic hypoglycemia was considered. Given the abnormalities, genetic analysis for congenital hyperinsulinism, including the genes causing KS was performed. A heterozygous frameshift mutation (c.2579del, p.Leu860Argfs*70) was detected in the KMT2D gene. Epilepsy and other neurological symptoms may be seen in KS patients and in some of these the neurological symptoms are the result of hypoglycemia. In such cases, the detection and prevention of hypoglycemia can help prevent the progression of neurological symptoms. We suggest considering the diagnosis of KS for patients with hypoglycemia and dysmorphic features, even if the patient does not manifest all features of KS.

Background It's known that overt hypothyroidism increases body fat content and weight. There's limited research about the effect of subclinical hypothyroidism (SH) on body composition in children and the effect of LT4 treatment. We aimed to evaluate body composition parameters in healthy subjects and in children with mild SH (MSH) and determine the effect of LT4 treatment. Methods Sixty‐four healthy children and 32 children with MSH were included. Anthropometric measurements and hormonal parameters were evaluated. Body composition was evaluated using bioelectric impedance analysis (BIA). Patients were put on LT4 treatment. BIA was performed again after 12 months of therapy. Results There was no significant difference between the anthropometric parameters and basal metabolic rate of the healthy children and the MSH group. The percentage of trunk muscle mass (TMM) in the MSH group was lower than in the control group (P < .05). After 12 months of LT4 treatment, the percentage of total fat‐free mass (FFM), TMM and trunk fat‐free mass (TFFM) were increased and percentage of total body fat mass and trunk fat mass were decreased (P < .05). The difference between the percentage of TMM in the MSH group and control group was insignificant after LT4 treatment (P > .05). Conclusions The percentage of TMM in children with MSH was found lower than healthy control group. After LT4 treatment, the percentage of the FFM, TMM and TFFM were increased and the difference between percentage of TMM in children with MSH and healthy controls was insignificant. Our data indicated that MSH might be associated with early changes in body composition parameters.

Background:Intracranial lesions may affect the hypothalamo-hypophyseal axis and lead to some neuro-endocrinological dysfunctions (hyperphagia, sleep disorders and hormonal dysfunctions). There is a very limited number of studies about childhood obesity and intracranial lesions.Aims:To evaluate the incidence of intracranial lesions and its role in clinical symptoms and aetiology in cases with morbid obesity who have been admitted to the paediatric endocrinology department with this complaint.Study Design:Cross-sectional study.Methods:A total of 120 cases admitted to the paediatric endocrinology department with the complaint of morbid obesity between 2002 and 2015 were included in this study. A detailed history was taken and a physical examination was performed; biochemical, hormonal parameters were evaluated. Contrast dynamic magnetic resonance imaging was performed in order to visualize cranial pathologies.Results:An intracranial lesions was detected in 16.6% of the patients and 55% of these lesions were adenoma of the hypophysis. Prolactin levels were increased in six patients but front hypophyseal hormone levels were within normal range in the rest of the patients. Growth velocity of the patients was not affected.Conclusion:In our study, the incidence of intracranial lesions in children and adolescents with morbid obesity was much higher than in the normal population. According to this data, we are of the opinion that contrast dynamic magnetic resonance imaging is helpful in children with morbid obesity for the early detection of the mass before it causes any clinical or neurological symptoms and in the prevention of future complications.

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes, usually occurring in the first 6 months of life. Here, we present a newborn, which was admitted with epileptic seizure on the postnatal second day of life. Sepsis and meningitis were ruled out. Cranial imaging and electroencephalography revealed normal. She developed transient NDM on the follow-up and was diagnosed to carry an ABCC8 mutation. Although the neurological features are more common in patients with KCJN11 mutations, patients with ABCC8 mutations could also represent with subtle neurodevelopmental changes or even with epileptic seizures. The genetic testing and appropriate therapy is important in this patient group for predicting clinical course and possible additional features.

Objectives The aim of this study was to evaluate the resilience of girls with central precocious puberty (CPP) during treatment with a gonadotropin-releasing hormone agonist (GnRHa) and compare these results with their healthy peers. Methods The Connor–Davidson Resilience Scale (CD-RISC) is a self-report scale used to quantify resilience, which is divided into seven subgroups (hardiness, coping, flexibility, purpose, optimism, regulation of emotion and cognition (REC), and self-efficacy). Fifty-one girls with CPP receiving GnRHa treatment and 51 healthy controls were involved in the study. Anthropometric measurements were evaluated and CD-RISC was performed at least six months after the initiation of GnRHa treatment. Results There was no statistically significant difference between the anthropometric evaluations of girls with CPP and the control group. Similarly, the total score and subgroup scores of patients with CPP and the control group showed no statistically significant difference. In the correlation analysis, there was a weak negative correlation between height and flexibility (r=−0.314 p=0.025), height SDS and flexibility (r=−0.254 p=0.092), height SDS, and purpose (r=−0.285 p=0.058). Also, there was a weak negative correlation between REC and weight (r=−0.435 p=0.003), REC and weight SDS (r=−0.461 p=0.002), REC and height (r=−0.269 p=0.077), REC and height SDS (r=−0.322 p=0.033), REC and BMI (r=−0.289 p=0.058), and REC and BMI SDS (r=−0.353 p=0.019). Conclusions The resilience of girls with CPP treated with GnRHa was found to be similar to their healthy peers. The early diagnosis of the disease and adequate treatment may decrease the discrepancy of somatic changes between girls with CPP and their peers, which may help them to overcome the stress of CPP and long-term treatment.