The basic helix-loop-helix (bHLH) transcription factor, neuronal differentiation 1 (NEUROD1) (also known as BETA2) is involved in the development of neural elements and endocrine pancreas. Less than 10 reports of adult-onset non-insulin-dependent diabetes mellitus (NIDDM) due to heterozygous NEUROD1 mutations and 2 cases with permanent neonatal diabetes mellitus (PNDM) and neurological abnormalities due to homozygous NEUROD1 mutations have been published. A 13 year-old female was referred to endocrine department due to hyperglycemia. She was on insulin therapy following a diagnosis of neonatal diabetes mellitus (NDM) at the age of 9-weeks but missed regular follow-up. Parents are second cousin. There was a significant family history of adult onset NIDDM including patient's father. Auxological measurements were within normal ranges. On laboratory examination blood glucose was 33.2 mmol/L with undetectable c-peptide and glycosylated hemoglobin level of 8.9% (73.8 mmol/mol). She had developed difficulty in walking at the age of 4 years which had worsened over time. On further evaluation, a diagnosis of visual impairment, mental retardation, ataxic gait, retinitis pigmentosa and sensory-neural deafness were considered. Cranial magnetic resonance imaging revealed cerebellar hypoplasia. Molecular genetic analysis using targeted next generation sequencing detected a novel homozygous missense mutation, p.Ile150Asn(c.449T>A), in NEUROD1. Both parents and 2 unaffected siblings were heterozygous for the mutation. We report the third case of PNDM with neurological abnormalities caused by homozygous NEUROD1 mutation, the first caused by a missense mutation. Heterozygous carriers of the p.Ile150Asn mutation were either unaffected or diagnosed with diabetes in adulthood. It is currently unclear whether the NEUROD1 heterozygous mutation has contributed to diabetes development in these individuals.

10.1111/pedi.12669

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The relationship between serum ghrelin levels and hair zinc concentrations in children

Journal of Clinical Research in Pediatric Endocrinology (2008)

Selim Kurtoğlu Esad Köklü Nihal Hatipoğlu Mehmet Emre Atabek

Zinc (Zn) plays a central role in the activation of numerous enzyme systems that synthesize and degrade bioactive peptides. Some of these bioactive peptides, also called neuropeptides, are involved in the regulation of food intake.In this study we aimed to demonstrate the relationship between serum ghrelin and hair Zn concentrations in children.Prepubertal children brought to our outpatient clinics by their parents because of signs and symptoms of pica, poor appetite, poor growth, and other complaints were included in the study. The children were divided into two groups according to Zn hair concentrations. Group 1 consisted of children with low (< 70 μg/g) hair Zn levels, and group 2 of children with normal ( ≥ 70 μg/g) hair Zn levels. Hair Zn concentrations, serum ghrelin, insulin-like growth factor I (IGF-I) and IGF-binding protein-3 (IGFBP-3) levels were measured in all children.There were 10 children with low hair Zn levels (group 1) and 15 with normal levels (group 2). Serum IGF-I, IGFBP-3 and ghrelin concentrations of group 1 (103.1 ± 71.8 ng/mL, 1412.8 ± 615.7 ng/mL and 0.96 ± 0.22 ng/mL, respectively) were lower than in group 2(164.9 ± 40.5 ng/mL, 2398.5 ± 295.5 ng/mL and 1.21 ± 0.23 ng/mL, respectively). In univariate analysis, Zn hair concentration was positively associated with serum IGF-I (r=0.424, p=0.035) and IGFBP-3 (r=0.671, p < 0.001) concentrations. The correlation between ghrelin and hair Zn concentrations was not significant (r=0.202, p=0.333).Serum ghrelin concentrations might be affected by low hair Zn concentrations in children.

10.4008/jcrpe.v1i1.14

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Age references for the arm span and stature of Turkish children and adolescents

Annals of Human Biology (2009)

M. Mümtaz Mazıcıoğlu Nihal Hatipoğlu Ahmet Öztürk İskender Gün Hasan Basri Üstünbaş

Arm span reference values need to be determined in screening for certain clinical conditions.To determine arm span reference values for screening purposes in children and adolescents.Children and adolescents aged 6-17 were selected according to socio-economic levels. Age, pubertal period and sex-specific height and arm span are presented as means and standard deviation. Construction of the centile curves was performed using LMS software; the 3rd, 50th and 97th percentiles of each sex were compared.A total of 5358 primary and secondary school students (2737 girls, 2621 boys) were sampled for this study. Centile curves for both genders and linear regression equations to predict height from arm span were produced (height = 13.4396 + 0.9037(arm span); r =0.95 for boys and height = 16.4181 + 0.8865 (arm span); r =0.93 for girls). The correlation between arm span and height (r =0.83 p=0.001) was high and significant through ages 6-17.The findings provide a comparison of height and arm span for clinical purposes in critical percentiles (3rd, 50th and 97th), although these findings suffer from a lack of longitudinal examination to show the progress of these two anthropometric measurements.

Arm span

Life span

10.1080/03014460902740954

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Citations (18)

High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients

Journal of Endocrinological Investigation (2024)

Yavuz Özer Ahmet Anık Uğurcan Sayılı Ummahan Tercan Reyhan Deveci Sevim

Abstract Purpose We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Türkiye, evaluate the etiological distribution in permanent congenital hypothyroidism (PCH) cases, and investigate the role of laboratory and clinical findings in predicting TCH. Methods This retrospective observational multicenter study included patients from 17 pediatric endocrinology centers identified by “National Newborn Screening Program” (NNSP) who were born in 2015 and followed for 6 years. Demographic, clinical, and laboratory information of the cases were compiled through the database http://cedd.saglik-network.org (CEDD-NET). Results Of the 239 cases initially treated for CH, 128 (53.6%) were determined as transient in whom a trial of levothyroxine (LT4) withdrawal was performed at a median age of 36 (34–38) months. Among the patients with PCH ( n = 111), thyroid dysgenesis was diagnosed in 39.6% ( n = 44). The predictive factors for TCH were: LT4 dose at the withdrawal of treatment, and initial newborn blood screening (NBS)-TSH level. Based on the receiver operating characteristic (ROC) curve analysis to predict optimal cut-offs for TCH predictors, LT4 dose < 2.0 µg/kg/day at treatment discontinuation was predictive for TCH and was associated with 94.5% specificity and 55.7% sensitivity, with an area under the curve (AUC) of 0.802. The initial NBS-TSH level value < 45 µIU/mL was predictive for TCH with 93.1% specificity and 45.5% sensitivity, with an AUC of 0.641. In patients with eutopic thyroid gland only LT4 dose < 1.1 µg/kg/day at withdrawal time was predictive for TCH with 84.7% sensitivity and 40.4% specificity, with an AUC of 0.750. Conclusion According to our national follow-up data, the frequency of TCH was 53.6%. We determined the LT4 dose < 2.0 µg/kg/day at discontinuation of treatment and the initial NBS-TSH level < 45 µIU/mL as the best cut-off limits to predict TCH.

Congenital hypothyroidism

Levothyroxine

Discontinuation

10.1007/s40618-024-02348-9

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A Rare Chromosomal Disorder, Trisomy 4p

57th Annual ESPE (2018)

Merve Nur Hepokur Zeynep Uzan Tatlı Gül Direk Leyla Akın Nihal Hatipoğlu

Trisomy

Rare events

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