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Leydig cell aplasia/hypoplasia is an autosomal recessive condition. In its complete form, these patients are 46XY but are cryptorchid and phenotypically female. Most cases reported in literature presented with in adolescence with pubertal delay. We reported a case with a predefined mutation in the LHCGR gene, presenting with swelling in the inguinal region and therefore diagnosed in early childhood. We wanted to emphasize the necessity of keeping Leydig cell hypoplasia in mind in the differential diagnosis of sexual development disorders in early childhood.

It is well-known that in children with type 1 diabetes (T1D), the frequency of Celiac disease (CD) is increased due to mechanisms which are not fully elucidated but include autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is the gold standard for diagnosis, avoiding unnecessary endoscopy is crucial. Therefore, for both clinicians and patients’ families, the diagnosis of CD remains challenging. In light of this, a joint working group, the Type 1 Diabetes and Celiac Disease Joint Working Group, was convened, with the aim of reporting institutional data and reviewing current international guidelines, in order to provide a framework for clinicians. Several controversial issues were discussed: For CD screening in children with T1D, regardless of age, it is recommended to measure tissue transglutaminase-immunoglobulin A (tTG-IgA) and/or endomysial-IgA antibody due to their high sensitivity and specificity. However, the decision-making process based on tTG-IgA titer in children with T1D is still debated, since tTG-IgA titers may fluctuate in children with T1D. Moreover, seronegativity may occur spontaneously. The authors’ own data showed that most of the cases who have biopsy-proven CD had tTG-IgA levels 7-10 times above the upper limit. The decision for endoscopy based solely on tTG-IgA levels should be avoided, except in cases where tTG-IgA levels are seven times and above the upper limit. A closer collaboration should be built between divisions of pediatric endocrinology and gastroenterology in terms of screening, diagnosis and follow-up of children with T1D and suspicious CD., NA

Benign transient hyperphosphatasemia is characterized by a significant increase in alkaline phosphatase levels, which is detected incidentally in infancy and children without underlying bone and liver disease. This condition is a biochemical disorder rather than a clinical disorder and resolves within a short duration. Recognition of this entity by pediatricians is important to avoid unnecessary investigations. Here, we report an infant who was diagnosed as having benign transient hyperphosphatasemia based on clinical and laboratory findings who had increased alkaline phosphatase levels during zinc supplementation, with the aim of highlighting benign transient hyperphosphatasemia in infancy and childhood.

Aim Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Material and methods Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. Results The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Conclusions Transient primary congenital hypothyroidism is more frequent than expected and found often in males in the primary congenital hypothyroidism cases, started thyroxin therapy in neonatal period. While fT4, thyroid-stimulating hormone, Tg levels at diagnosis do not predict transient/permenant primary congenital hypothyroidism, thyroxin dose before the therapy cessation at the age of 3 may make the distinction between transient/permenant primary congenital hypothyroidism.

Insulin-induced oedema is a rare complication of insulin therapy and occurs shortly after the initiation of intensive insulin therapy in patients with newly diagnosed type 1 diabetes mellitus (DM) or in patients with poorly controlled type 2 DM following the initiation of insulin therapy and also in underweight patients on large doses of insulin. It is characterized by the development of lower extremity oedema or less common generalized oedema after administration of insulin and resolves spontaneously within a few weeks. We report a case of a 9-year-old boy with newly diagnosed type 1 DM, who developed insulin oedema of lower extremities and scrotum within a few days after the initiation of insulin treatment., Вызванный введением инсулина отек относится к редким осложнениям инсулинотерапии. Он возникает вскоре после начала интенсивной терапии инсулином у пациентов с впервые диагностированным сахарным диабетом (СД) 1-го типа или у пациентов с плохо контролируемым СД 2-го типа после начала терапии инсулином, а также у пациентов с низкой массой тела при введении больших доз инсулина. Процесс характеризуется развитием отека нижних конечностей или менее распространенным отеком после введения инсулина с последующим самопроизвольным рассасыванием в течение нескольких недель. Авторы сообщают о случае развития отека нижних конечностей и мошонки у 9-летнего мальчика с впервые диагностированным СД 1-го типа через несколько дней после начала лечения инсулином., Спричинений введенням інсуліну набряк належить до рідкісних ускладнень інсулінотерапії. Він виникає невдовзі після початку інтенсивної терапії інсуліном у пацієнтів з уперше діагностованим цукровим діабетом (ЦД) 1-го типу або в пацієнтів із погано контрольованим ЦД 2-го типу після початку терапії інсуліном, а також у пацієнтів із низькою масою тіла при введеннi великих доз інсуліну. Процес характеризується розвитком набряку нижніх кінцівок або менш поширеним набряком після введення інсуліну з подальшим спонтанним розсмоктуванням протягом декількох тижнів. Автори повідомляють про випадок розвитку набряку нижніх кінцівок та мошонки в 9-річного хлопчика з уперше діагностованим ЦД 1-го типу через декілька днів після початку лікування інсуліном.

TipI Diabetes Mellitus çocukluk çağının ciddi komplikasyonlar ile seyreden kronikmetabolik hastalıklarından biridir. Bu çalışmanın amacı Tip I DiabetesMellituslu çocuklarda erken dönemde santral sinir sistemi tutulumunun uyarılmışpotansiyeller aracılığıyla değerlendirilmesi ve metabolik değişikliklerleilişkisini saptamaktır. Çalışmaya5-14 yaş arasında 31 Tip I Diabetes Mellituslu ve aynı yaş ve cinsiyette 35sağlam çocuk alındı. Olgulardan 8 saat açlık sonrası HbA1c, kan şekeri, serumve hücre içi magnezyum düzeyleri için kan örnekleri alındı. Tüm olgularınotoskopik muayeneleri, işitme testleri ve uyarılmış potansiyel ölçümleriyapıldı. Gruplar metabolik parametreler, diabet süresi ve uyarılmışpotansiyeller açısından karşılaştırıldı. Çalışma grubunun HbA1c ve kan şekerideğerleri kontrol grubuna göre anlamlı düzeyde yüksek, serum Mg değerleriistatistiksel olarak anlamlı oranda düşük saptandı (p0.05). Diabetik gruptaki tüm bu etkilenmelerin serumve hücre içi magnezyumu, eş zamanlı kan şekeri, diabet süresi ve HbA1cdüzeyleri ile ilişkili olduğu bulundu (p, TypeI Diabetes Mellitus is a chronic disease associated with high morbidity andcomplications. The aim of this study was to evaluate central nervous systeminvolvement by evoked potentials in diabetic children and identify the relationwith metabolic disturbances. Thestudy comprised of 31 Type I diabetic children with aged 5-14 years and 35 ageand sex matched controls. Visual,brainstem auditory and somatosensory evoked potentials, otoacoustic emissionswere recorded in all subjects. Metabolic control was evaluated in terms ofglyceamia, glycosylated haemoglobin, serum and intracellular magnesium status.Groups were compared due to metabolic processes, disease duration and evokedpotentials. Inthe diabetic group, serum glucose and HbA1c levels were higher and serummagnesium levels were lower (p0.05).The significant difference of the evoked potentials in the diabetic groups washighly related with HbA1c and serum andintracellular magnesium levels as well as blood glucose levels and duration ofdiabetes (p

Context The clinical effects of classical 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency are insufficiently defined due to a limited number of published cases. Objective To evaluate an integrated steroid metabolome and the short- and long-term clinical features of 3βHSD2 deficiency. Design Multicenter, cross-sectional study. Setting Nine tertiary pediatric endocrinology clinics across Turkey. Patients Children with clinical diagnosis of 3βHSD2 deficiency. Main Outcome Measures Clinical manifestations, genotype-phenotype-metabolomic relations. A structured questionnaire was used to evaluate the data of patients with clinical 3βHSD2 deficiency. Genetic analysis of HSD3B2 was performed using Sanger sequencing. Novel HSD3B2 mutations were studied in vitro. Nineteen plasma adrenal steroids were measured using LC-MS/MS. Results Eleven homozygous HSD3B2 mutations (6 novel) were identified in 31 children (19 male/12 female; mean age: 6.6 ± 5.1 yrs). The patients with homozygous pathogenic HSD3B2 missense variants of > 5% of wild type 3βHSD2 activity in vitro had a non-salt–losing clinical phenotype. Ambiguous genitalia was an invariable feature of all genetic males, whereas only 1 of 12 female patients presented with virilized genitalia. Premature pubarche was observed in 78% of patients. In adolescence, menstrual irregularities and polycystic ovaries in females and adrenal rest tumors and gonadal failure in males were observed. Conclusions Genetically-documented 3βHSD2 deficiency includes salt-losing and non-salt–losing clinical phenotypes. Spared mineralocorticoid function and unvirilized genitalia in females may lead to misdiagnosis and underestimation of the frequency of 3βHSD2 deficiency. High baseline 17OHPreg to cortisol ratio and low 11-oxyandrogen concentrations by LC-MS/MS unequivocally identifies patients with 3βHSD2 deficiency.

Background: This study was to determine whether pituitary dysfunction occurs after head trauma in children or not and which axis is affected more; to define the association of pituitary dysfunction with the severity of head trauma and duration time after the diagnosis of head trauma. Materials and Methods: In this study, 24 children who were diagnosed with head trauma were evaluated regarding pituitary dysfunction. In all cases, after 12 h fasting, serum cortisol, fT3, fT4, thyroid-stimulating hormone, prolactin, insulin-like growth factor-1, serum sodium, urine density, follicle-stimulating hormone, luteinizing hormone, in female cases E2, in male cases, TT levels were determined. Results: Mean age of children was 9.5 ± 3.1 years, 14 children (58.3%) had mild, 9 children (37.5%) had moderate, and 1 children (4.2%) had severe head trauma according to the Glasgow coma scale. Mean duration time after head trauma was 29.4 ± 9.8 months. In all cases, no pathologic condition was determined in the pituitary hormonal axis. In one children (4.2%), low basal cortisol level was found. There were no children with hormonal deficiency in this study. Conclusion: Although pituitary dysfunction after head trauma may develop in the early period, some may present in the late period; therefore, all cases should be followed up at outpatient clinics for a longer period.

We report an infant with exogenous Cushing syndrome after being treated for 2 months with a potent topical corticosteroid via the mother's application of topical clobetasol for diaper rash without a prescription. We emphasize that potent topical steroids should be used with great caution, especially when used under occlusion (e.g., diaper area) and that parents should be warned about potential side effects of these medications, particularly when used in infants.

Background and aims Many diseases, especially chronic diseases, can lead to sleep disturbances. Our study aimed to evaluate sleep characteristics and the relationship between sleep disorders and diabetes-related variables in type 1 diabetes adolescents and to compare these results with a non-diabetic group of similar age and gender. Methods This cross-sectional study collected data from 40 healthy adolescents and 50 patients of the same age group with type 1 diabetes mellitus from January 2019 to June 2019. Subjects were asked to complete the Pittsburgh Uyku Kalitesi Anketi (PUKA). Patients who had nocturnal hypoglycemia in the preceding one month were excluded. Results Total scores for PUKA were not significantly different between the two groups (P = 0.197). No significant relationship was found between sleep quality, duration of diabetes, and HbA1c levels in the diabetes group (P = 0.59, P = 0.41, respectively). Poor sleep quality (PUKA score ≥5) in girls without diabetes was higher (95% confidence interval: 1.26-11.61) than in the diabetes group (P = 0.031). Conclusion In our study, the prevalence of sleep disorders in T1D patients was not higher than the non-diabetic population. However, the girls in the non-diabetic group had significant poor sleep quality. We hypothesize that this may be due to diabetes management bringing order and discipline to an adolescents life.

ABALI, SAYGIN/0000-0001-6552-2801; Turan, Serap/0000-0002-5172-5402; Hatun, Sukru/0000-0003-1633-9570; Akgun, Abdurrahman/0000-0002-2917-2469; yesiltepe mutlu, gul/0000-0003-3919-7763; Ozgen, Ilker Tolga/0000-0001-6592-9652 WOS: 000451667000006 PubMed: 29789274 Objective: To assess the incidence of type I diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9. 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6 %) were girls and 911 (51.4%)were boys. The mean age at diagnosis was 9.2 +/- 4.2 years and it was not significantly different between girls (9.0 +/- 4.1 years) and boys (9.4 +/- 4.4 years) (p = 0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/1 00.000 respectively. The incidence of T1DM was similar over the course of three years (p = 0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.

Study Objective To investigate the characteristics of children with ovarian cysts and evaluate treatment strategies. Design Retrospective study. Setting Eight pediatric endocrinology clinics, Turkey. Participants A total of 100 children and adolescents with ovarian cysts. Interventions Patient data collected via retrospective chart review. Patients were stratified according to age into 4 groups (newborns, 1-12 months, 1-8 years, and 8-18 years). Main Outcome Measures Special emphasis was given to torsion and tumor cases, concomitant diseases, treatment modalities, and problems during follow-up. Results Most newborns and infants were asymptomatic with the cysts being discovered incidentally; in girls ages 1-8, symptoms were common, including breast budding (47.1%, 16 of 34) and vaginal bleeding (29.4%, 10 of 34). Girls older than 8 years mostly presented with abdominal pain (31.6%, 12 of 38) and menstrual irregularity (21.1%, 8 of 38). Most of our patients were diagnosed with a simple ovarian cyst, but 9 patients were found to have ovarian tumors. Ovarian torsion was detected in 7 patients; 5 with large and 2 with small cysts (

Hatun, Sukru/0000-0003-1633-9570; Mengen, Eda/0000-0003-1597-8418; binay, cigdem/0000-0002-7749-8818; UCAKTURK, Seyit Ahmet/0000-0001-8666-4454 WOS: 000381646900004 PubMed: 27423071 Aims: To evaluate the management strategies, glycemic control and complications of pediatric type 1 diabetes mellitus (T1DM) patients in Turkey. Methods: Study included 498 patients with T1DM between the ages 1-18. Data provided from patients' hospital files were recorded on standard case report forms by applicant clinicians within the 3 months of data collection period between October 2012 and July 2013. Results: Mean age of patients was 11.3 +/- 3.8 years. Mean duration of DM was determined as 3.7 +/- 3.1 years. Majority of patients (85.5%) used basal/bolus injection (BBI), and 6.5% used continuous subcutaneous insulin infusion pump. Assessment of glycemic control based on HbA1c levels showed that 29.1% of patients had an HbA1c value 9%(75 mmol/mol). Hypoglycemia was reported in 145 (29.1%) patients and the number of severe hypoglycemic attacks in the last 3 months was 1.0 +/- 2.4. Taking into consideration the carbohydrate count and insulin correction dose and parents with high socioeconomic status was related to have better glycemic control. The most common comorbidities were Hashimoto's thyroiditis/hypothyroidism (6.2%) followed by celiac disease (3.8%), epilepsy(1.2%), and asthma(1.0%). Conclusions: BBI insulin therapy is widely used among pediatric T1DM patients in Turkey. However, despite improvements in treatment facilities and diabetic care, glycemic control is not at a satisfactory level. Therefore, new and comprehensive initiatives require for pediatric T1DM patients with poor glycemic control. Promoting use of carbohydrate count and insulin correction doses may improve the glycemic control of pediatric T1DM in Turkey. (C) 2016 Elsevier Ireland Ltd. All rights reserved. Sanofi Study was funded by Sanofi.

WOS: 000378819700011, PubMed ID: 26964727, Aim: The causes of gonadotropin-independent precocious puberty are diverse, and often have overlapping clinical and biochemical features. With the exception of congenital adrenal hyperplasia (CAH), disorders that cause gonadotropin-independent precocious puberty (GIPP) are uncommon. The literature is devoid of any large-scale studies on the etiologic distribution of GIPP. The aim of this study was to determine the frequency of each etiology in a cohort of patients with GIPP (excluding those with CAH), and to evaluate the clinical and laboratory features of these patients. Materials and Methods: This multicenter, nationwide web-based study collected data on patients who presented with non-CAH GIPP in Turkey. Results: Data were collected for 129 patients (102 girls and 27 boys) from 29 centers. Based on the data collected, the estimated prevalence of non-CAH GIPP in the studied population was 14 in 1 000 000 children. Functional ovarian cyst was the most common etiology, accounting for 37% of all cases, followed by McCune-Albright syndrome (MAS) (26%). Among the patients with MAS, 11.7% had fibrous dysplasia, 32.3% had caf-au-lait spots, and 52.9% had both. Human chorionic gonadotrophin-secreting tumors included choriocarcinoma of the liver, hepatoblastoma, and germ cell tumors of the sellar-suprasellar region and mediastinum. Patients with adrenocortical tumors presented at an earlier age than those with other etiologies. Ovarian tumors included mature cystic teratoma, dysgerminoma, juvenile granulosa tumor, and steroid cell tumor. Despite overlapping features, it was possible to identify some unique clinical and laboratory features associated with each etiology. Conclusion: This largest cohort of patients with non-CAH GIPP to date yielded an estimation of the frequency of non-CAH GIPP in the general pediatric population and showed that girls were affected at a rate 4-fold greater than that of boys owing to functional ovarian cysts and MAS, which were the two most common etiologies. The data collected also provided some unique characteristics associated with each etiology., Turkish Pediatric Endocrinology and Diabetes Society [052014], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (No: 052014).

Background/Aim: The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner’s syndrome (TS) and the distribution of GHR exon 3 isoforms. Materials and Methods: 218 patients with GHD (125 males/93 females) and 43 patients with TS were included in the study. The control group included 477 healthy adults aged from 18 to 57 years (54 females/423 males). Anthropometric parameters and insulin-like growth factor (IGF)-1 and IGF binding protein (IGFBP)-3 were evaluated annually. GHR isoforms were studied using simple multiplex PCR. Height and body mass index were expressed as standard deviation score (SDS). Results: There were no differences among TS, GHD and healthy adults regarding the distribution of GHR exon 3 isoforms (fl/fl, fl/d3 and d3/d3). There was a significant increase in height SDS in both diagnostic groups on GH therapy; however, there were neither differences in height SDS and Δheight velocity between fl/fl, fl/d3 and d3/d3 groups nor a correlation between the distribution of GHR exon 3 isoforms and change in IGF-1 SDS and IGFBP-3 SDS levels on GH therapy in either of the diagnostic groups. There was also no gender difference in GHR isoforms in healthy adults. Conclusion: The results suggest that responsiveness to GH therapy does not depend on the exon 3 GHR genotypes in GHD and TS patients.

To assess the long-term effect of pamidronate therapy on bone mineral metabolism and bone mineral density (BMD) in children with osteogenesis imperfecta (OI) and to evaluate BMD results with respect to national standards.Pamidronate was administered intravenously on 3 consecutive days every 3 to 4 months at a dose of 1 mg/kg/d in 35 patients. Infusion cycles ranged from 4 to 17. Serum calcium, phosphorus, bone turnover markers, L1-L4 areal BMD (aBMD), and fracture rate were evaluated. Areal BMD Z scores were compared with national sex-specific reference data and volumetric BMD Z scores.In all children, linear growth continued along the same percentile during treatment. All parameters of bone turnover showed a decrease. L1 to L4 aBMD and Z score increased markedly, and fracture rate decreased in all patients during therapy. The mean annual percent gain in aBMD was highest in the first year and slowed down in subsequent years. Mean L1 to L4 aBMD Z scores according to Turkish reference data were higher than that of manufacturer values (P = 0.004). Correction of L1 to L4 vertebrae for bone size yielded to a decrease in osteoporosis in OI patients (41.5% vs 22.3%).Bone mineral density increased and fracture rate decreased in children and infants with OI during pamidronate treatment. Prevalence of osteoporosis decreased after correction for national standard and volumetric BMD. Use of an appropriate reference database and method of data analysis are very important for correct evaluation of osteoporosis.

Background: It is known that oxygen-derived free radicals play an important role in the pathogenesis of brain injury. Melatonin is a powerful scavenger of the oxygen free radicals. In this study, the protective effect of melatonin against the damage inflicted by reactive oxygen species during brain hypoxia was investigated in newborn rats using biochemical parameters. Methods: For biochemical analyses, the levels of lipid peroxidation product (malondialdehyde ([MDA]), levels of reduced glutathione (GSH) and the activities of superoxide dismutase (SOD) and catalase (CAT) were estimated. Results: After the third day of brain hypoxia, the brain levels of MDA increased. Pretreatment of animals with melatonin abolished the rise in MDA induced by hypoxia. GSH concentration did not increase by pretreatment with melatonin. Additonally, the activities of two antioxidative enzymes (SOD and CAT) decreased after the experimental period with melatonin only preventing the change of CAT. The activity of SOD was not influenced by melatonin administration as expected. Conclusion: In this experimental study, exogenously administered melatonin effectively protected against brain injury by oxidative stress. This protective effect of melatonin may be due to its direct scavenger activity and activation of CAT. Thus, melatonin may potentially be useful in the treatment of neurodegenerative conditions that may involve free radical production, such as perinatal hypoxia.

Background/Aims: Congenital adrenal hyperplasia (CAH) is characterized by adrenal insufficiency with or without salt wasting. It is also accompanied by adrenomedullary hypofunction. The aim of the present study was to investigate adrenomedullary function in patients with CAH due to 21-hydroxylase and 11β-hydroxylase deficiencies and in age-matched normal subjects. Methods: We measured plasma catecholamines (epinephrine and norepinephrine) and urine metanephrine in 44 patients with CAH, 32 due to 21-hydroxylase deficiency (17 patients with the salt-wasting form and 15 patients with the simple virilizing form), and 12 due to 11β-hydroxylase deficiency, and in 25 healthy controls. Results: Plasma epinephrine and urine metanephrine levels were significantly higher in the controls than in patients with CAH (p = 0.02 and p < 0.001, respectively). Plasma norepinephrine levels were significantly lower in the controls than in patients with CAH (p < 0.001). Interestingly, patients with the salt-wasting form had lower norepinephrine levels in comparison to the other subgroups of CAH. Conclusion: Despite the fact that CAH patients have insufficient epinephrine secretion, these patients have the ability to increase compensatory norepinephrine. However, this increase is much lower in patients with the salt-wasting form. These findings need to be confirmed by other studies.

Objective Monitoring of the dorsal sural sensory nerve action potential (SNAP) is a sensitive method for detection of peripheral neuropathies. We tried to determine the normal dorsal sural nerve conduction values of the childhood population and assessed the clinical utility of this method in diabetic children who have no clinical sign of peripheral neuropathy. Methods In the study, 36 healthy and 27 diabetic children were included. In all subjects peripheral motor and sensory nerve studies were performed on the upper and lower limbs including dorsal sural nerve conduction studies. Results The dorsal sural SNAP mean amplitude was 8.24±3.08 μV, mean latency was 2.47±0.48 ms, mean sensory conduction velocity was 41.63±5.43 m/s in healthy children. Dorsal sural SNAPs were absent bilaterally in one diabetic patient. In the other 26 diabetic patients, the mean dorsal sural nerve distal latency was longer (2.93±0.63 ms, P =0.004), mean SCV was slower than in healthy subjects (36.68±7.66 m/s, P =0.005). However, dorsal sural nerve amplitude was not different between the groups. A dorsal sural nerve latency of more than 2.9 ms had a sensitivity of 50% and a specificity of 75%. A dorsal sural nerve velocity of less than 36 m/s had a sensitivity of 54% and a specificity of 92%. Conclusions We designated the reference values of the dorsal sural nerve in healthy children. In addition, our findings suggest that dorsal sural nerve conduction studies may have value to determine neuropathy in the early stages in children with diabetes. Significance The dorsal sural nerve conduction studies in diabetic children may have value to determine the neuropathy in its early stages.

Wolf-Hirschhorn syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and cardiac septal defect. We herein present a new case of WHS with bilateral iris colobomata and a left intraorbital large coloboma cyst causing exophthalmos.