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.
Priapism is the prolonged and painful penile erection in the absence
Scrotal hair is a clinical condition that occurs rarely in infancy. Its prevalence is not known. We present a retrospective analysis of six patients referred to our pediatric endocrinology clinic. Except for scrotal hair development, all physical examinations were normal. Underlying pathologic hyperandrogenism was excluded in each case. Clinical regression was observed in all four infants with documented follow-up visits. Scrotal hair in infancy is not well known to most pediatricians and dermatologists and can cause parental anxiety. Our cases are typical of the benign course of isolated scrotal hair.
Background While thyroid dysfunction develops in about 50% of untreated children with cystinosis, there is no data about how the sonography of thyroid tissue appears in this disease. Therefore, the purpose of this study was to assess the sonographic appearance, color doppler findings in this disease and to evaluate how cystine crystal accumulation affect tissue stiffness using shear wave elastography (SWE). Methods Sixteen children diagnosed with cystinosis and a control group consisting of 34 healthy children were included in this study. B mode ultrasound, color doppler imaging and real-time SWE of thyroid tissue were performed. Results Ultrasound imaging revealed lower echogenicity and diffuse heterogeneous echotexture in 7 of the 16 cystinosis patients. Thyroid gland volumes were lower in cystinosis patients (p 0.005). Doppler ultrasound demonstrated increased flow in 8 patients. On SWE, the thyroid tissue stiffness was established to be lower in patients compared to healthy children (p 0.003). Conclusions This is the first study evaluating thyroid gland B mode, color doppler ultrasonography, and SWE findings in cystinosis. Our findings indicate that cysteamine treatment still cannot completely prevent the disease infiltration process of thyroid gland. The other important finding—that thyroid tissue stiffness was established to be lower than that of the controls—also demonstrates the ongoing disease infiltration process.
İntrauterin büyüme geriliği (İUGR), metafizyal displazi, adrenal hipoplazi konjenita, genital anomalilerin birlikteliği olarak bilinen İMAGe sendromu, ismini bu hastalıkların baş harflerinden almıştır. Konjenital adrenal hipoplazi en ciddi bulgusudur ve genellikle hayatın ilk aylarında meydana gelir. Sunulan hastada da antenatal dönemde ektremite kısalığı saptanmış olup adrenal yetmezlik bulguları postnatal 4. gününde ortaya çıkmıştır. İMAGe sendromunun erken tanısı, sendrom bileşenlerinden olan surrenal yetmezliğin hayati tehlikeye neden olması açısından önemlidir.Sendromun diğer bileşenlerinin bilinmesi karşılaşılan olguda erken müdahaleyi de mümkün kılar.Burada nadir görülmesi nedeniyle İMAGE sendromlu bir olgu, sendromla ilgili kısa literatür bilgileri ile paylaşılacaktır.
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