Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

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.

Ganglion Impar block improves neuropathic pain in coccygodynia: A preliminary report.

AIM OF THE STUDY: To define the effectiveness of ganglion Impar block in improving neuropathic pain. MATERIALS AND METHODS: Patients who had pain around the coccyx for more than three months and did not respond to conservative treatment were included in this study. All the patients underwent fluoroscopy guided transsacrococcygeal ganglion Impar block with injecting 3 mL of 0.5% bupivacaine, 2 mL saline, and 1 mL (40 mg) of methylprednisolone. Patients were evaluated with visual analog scale (VAS) for pain, Leeds assessment of neuropathic symptoms and signs scale (LANSS) for neuropathic pain, Beck depression Inventory (BDI) for mood and Short-form 12 (SF-12) for quality of life before, 1 month 3 months and 6 months after the injection. Patients' painless sitting duration was also recorded. RESULTS: A total of 28 patients were included in the final analyses. VAS and LANSS scores improved significantly throughout the follow-up periods. BDI scores also improved while SF-12 scores did not show significant changes. Painless sitting period of the patients' improved significantly. CONCLUSIONS: Ganglion Impar block is effective in decreasing the neuropathic component of chronic coccygodynia. This improves painless sitting in patients but its reflections on quality of life is not clear.

Scrotal hair in infancy: A case series.

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.

Evaluation of micronutrient levels in children and adolescents with obesity and their correlation with the components of metabolic syndrome.

BACKGROUND: Obesity is a significant public health problem worldwide. Vitamin deficiencies, developing due to monotype nutrition, are more likely to be observed in patients than healthy children. The present study evaluates vitamin and micronutrient levels in children and adolescents with obesity and metabolic syndrome compared to healthy controls. METHODS: The study included 73 patients with obesity, 64 patients with metabolic syndrome and 71 healthy children (control group) aged 10 to 16 years. Physical examinations were performed, and waist circumference and systolic blood pressure measurements were recorded. Fasting blood glucose, triglyceride, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, total cholesterol, insulin, vitamin A, vitamin E, vitamin B1, vitamin B2, vitamin B6, vitamin B12, folic acid and free carnitine levels were analyzed. The homeostatic model of assessment-insulin resistance (HOMA-IR) index was calculated and recorded. RESULTS: The mean age of all patients was 11.9±2.6 years. The serum insulin level and HOMA-IR index were found to be significantly higher in the obesity and metabolic syndrome groups. No significant difference was found between the groups in terms of vitamin A, vitamin B6 and free carnitine levels. Significantly decreased vitamin E, vitamin B2, vitamin B12 and folic acid and increased vitamin B1 levels were observed in the obesity and metabolic syndrome groups. CONCLUSIONS: Compared to healthy children, children with obesity and metabolic syndrome may have varying degrees of micronutrient and vitamin deficiency due to poor and unbalanced eating habits. These deficiencies should also be considered in the treatment and follow-up of obesity and metabolic syndrome.

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study. Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail. Results: The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6%, macroadenomas in 27%, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4%. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n=206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n=27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/mL, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3% were treated with cabergoline and 13.4% with bromocriptine. 20.1% of the patients with pituitary adenomas underwent pituitary surgery. Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised.

Menstrual Characteristics and Related Problems in 9- to 18-Year-Old Turkish School Girls.

STUDY OBJECTIVE: To determine the cross-sectional characteristics of menstruating girls, dysmenorrhea, and the frequencies of related problems. DESIGN: Descriptive, cross-sectional study. SETTING: Randomly selected primary, junior, and high schools in the city center of Kayseri. PARTICIPANTS: Two thousand female adolescents of ages between 9 and 18 years. MAIN OUTCOME MEASURES: We used a questionnaire addressing the epidemiological characteristics of menstruation, such as age at menarche, duration of menstrual intervals, average days of bleeding, and any menstrual problems and their frequencies. RESULTS: This study consists of a sufficient number of participants from all age groups. Of the participant (n = 2000) girls, 63.7% (n = 1274) had started menstruating. The mean age at menarche was 12.74 (±1.03) years. With a prevalence of 84.8% (n = 1080), dysmenorrhea was the most prevalent menstrual problem and the average pain score was 5.87 (±2.45). Of the menstruating girls, 34% (n = 439) used painkillers, the most commonly used was acetaminophen; during their period the prevalence of nonmedical methods to relieve pain was 35.2%; the rate of seeking medical help for dysmenorrhea was 9.3% (n = 119). In menstruating participants, 90.8% discussed their menstrual problems with their mothers. The rate of school absenteeism in menstruating girls was 15.9% in general and 18% in those with dysmenorrhea. CONCLUSION: Problems related to menstruation are common in adolescents and these problems affect their social life. In adolescent girls, the most common menstrual problem is dysmenorrhea and it affects school performance and attendance. Girls with menstrual problems showed a low rate of seeking medical help.

Pseudotumour Cerebri Presentation in a Child Under the Gonadotropin-Releasing Hormone Agonist Treatment.

Gonadotropin-releasing hormone analogues are common treatment option in central precocious puberty in childhood as well as in endometriosis, infertility, and prostate cancer in adults. Pseudotumor cerebri is a rare side effect observed in adults. We present the case of a girl with precocious puberty treated with triptorelin acetate who developed pseudotumor cerebri after the 4th dose. She had headaches, and her blood pressure was detected to be above the 99 percentile. There were no causes underlying of hypertension such as cardiac, renal, or endocrine. Neurological examination was normal except bilateral papilledema. Cranial magnetic resonance imaging was normal. Cerebrospinal fluid (CSF) opening pressure was elevated. Triptorelin therapy was ceased and acetazolamide was applied; CSF pressure returned to normal. We observed pseudotumor cerebri after precocious puberty treatment, a finding for the first time ever seen in childhood.

Dermal and Ophthalmic Findings in Pseudohypoaldosteronism.

Pseudohypoaldosteronism (PHA) is defined as a state of resistance to aldosterone, a hormone crucial for electrolyte equilibrium. The genetically transmitted type of PHA is primary hypoaldosteronism. Secondary hypoaldosteronism develops as a result of hydronephrosis or hydroureter. PHA patients suffer from severe hyponatremia and a severe clinical condition due to severe loss of salt can be encountered in the neonatal period. Dermal findings in the form of miliaria rubra can also develop in these patients. With the loss of salt, abnormal accumulation of sebum in the eye due to a defect in the sodium channels can also occur. In this paper, a case of PHA in a newborn showing typical dermatological and ophthalmological findings is presented.

A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature.

Gonadotropin-releasing hormone analogues are used in the treatment of prostate cancer, breast cancer, endometriosis, and uterine leiomyomas in adults and often in the treatment of precocious puberty in children. Many adverse effects have been reported for gonadotropin-releasing hormone analogues, but anaphylaxis is rarely reported as an adverse effect. Frequent cross-reactions, particularly during childhood, and diversity of the time of onset of anaphylactic manifestations complicate the diagnosis. A patient who exhibited anaphylactic allergic reactions to two different agents used in the treatment of central precocious puberty presented here because the case has an atypical course and is the first in the literature.

Therapeutic ultrasound versus sham ultrasound for the management of patients with knee osteoarthritis: a randomized double-blind controlled clinical study.

AIM: The aim of this trial was to evaluate the short-term effectiveness of ultrasound (US) therapy on pain, physical function, ambulation activity, disability and psychological status in patients with knee OA. METHODS: Forty-two inpatients with bilateral knee OA were randomized by an independent researcher not involved in the data assessment, to receive either therapeutic continuous US (group 1) or sham US (group 2). A 1-MHz US head was used, set to an intensity of 1 W/cm(2) for 10 min. All patients received 20 min of hot packs, 10 min of interferential current, and 15 min of quadriceps isometric exercise of both knees. Patients in each group received treatments five times weekly for 3 weeks. Patients were evaluated at baseline and at the end of the treatment sessions. Outcome measures included visual analogue scale (VAS), Western Ontario and McMaster University Osteoarthritis Index (WOMAC), 50-m walking speed, Lequesne index, Hospital Anxiety and Depression Scale (HADS). RESULTS: The patients with knee OA had significant improvements in pain, stiffness, functional activity, walking time, disability, depression and anxiety scores with therapeutic US and sham US (P < 0.05). The improvement in pain VAS scores, WOMAC scores, Lequesne index and HADS scores were not significantly different in patients treated with US and sham US (P > 0.05). No side-effects were reported during or after the US treatment periods. CONCLUSION: US therapy is safe but use of US in addition to conventional physical therapy programs seems to have no further significant effect in people with knee OA.