SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia.

Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). This case report describes an infant with achondroplasia who presented with a syndrome of inappropriate antidiuretic hormone secretion (SIADH), secondary to significant FMS and myelocompression. A 2-month-old boy with prenatally diagnosed achondroplasia was referred due to disordered breathing and altered consciousness. On admission, apathy, hypotonus, and hypothermia with typical features of achondroplasia were noticed. Laboratory investigations revealed severe hyponatremia and hypochloridaemia with normal glucose and urea levels. The diagnosis of SIADH was made based on low serum osmolality in the presence of high urine osmolality, along with an elevated copeptin level. An emergency computerized tomography showed a high-grade stenosis at the cranio-cervical junction; subsequent magnetic resonance imaging demonstrated myelocompression. The patient underwent decompression surgery the next day; serum osmolality increased after the operation. Spontaneous breathing after extubation was sufficient whereas tetraplegia persisted despite intensive physiotherapy. Clinicians should be aware of SIADH as a presenting sign of FMS in children with achondroplasia. Further discussion is warranted regarding improving parental education and timing of screening recommendations.

Graves' disease in children with Down syndrome.

While subclinical or overt hypothyroidism are common in Down syndrome (DS); Graves' disease (GD) is rare (ranges 0.6-3%). We aimed to evaluate the clinical features, course, and treatment of GD in children with DS and compare them with those without DS. Among 161 children with GD, 13 (8 female, 5 male) had DS (8%). Data were collected retrospectively from patients' medical records. The mean age at diagnosis was 10.6 ± 4.5 years, with a female-to-male ratio 1.6:1. The main symptoms were weight loss (n = 6), increased irritability (n = 3), and increased sweating (n = 3). None had orbitopathy. Seven of 11 patients with a thyroid ultrasound at diagnosis had a goitre. On admission, all had thyroid-stimulating hormone (TSH) <0.01 mU/L (normal range (NR): 0.51-4.30), free triiodothyronine, free thyroxine (mean ± s.d .), and thyrotrophin receptor antibodies (median, range) were 22.2 ± 10.2 pmol/L (NR: 3.5-8.1), 50.2 ± 18.7 pmol/L (NR 12.6-20.9), and 17.0 (2.89-159.0) U/L (NR <1), respectively. Patients were treated either with methimazole (n = 10) or carbimazole (n = 3), a dose of 0.54 ± 0.36 mg/kg/day. The treatment was 'block and replace' in ten patients and 'dose titration' in three patients, with a mean duration of 43.4 ± 11.0 months. Of 13 patients, four are still receiving primary treatment, three are in remission, one patient had two medically treated recurrences, three underwent surgery without complications, and two patients were lost to follow-up. Our data show that the clinical course of GD in patients with DS was similar to those without DS and suggest that a prolonged medical therapy should be the preferred option.

Neutropenia Occurs More Often Under Carbimazole than Under Methimazole Treatment in Pediatric Graves' Disease Patients.

Background: Agranulocytosis is a rare antithyroid drug treatment (ATD) side effect seen in children suffering from Graves' disease (GD). Neutropenia is a recognized adverse event associated with ATD but has also been reported as pre-treatment neutropenia in GD. Methods: We performed a retrospective cohort study to analyze the longitudinal clinical and biochemical data of 161 pediatric patients with GD who received either methimazole (MMI) or carbimazole (CBZ) as ATD. The inclusion criteria were elevated free thyroxine (fT4 >25 pmol/L), suppressed thyrotropin (TSH <0.05 mlU/mL), and elevated thyrotropin receptor antibodies (TSHRAbs >2.5 IU/L). Absolute neutrophil count (ANC) was used to define neutropenia (ANC <1800/µL) and agranulocytosis (ANC <500/µL). Results: Nine of the 161 patients had neutropenia at diagnosis (ANC: 1348/µL ± 250) without further deterioration under ATD. In this subgroup, we found higher levels of free triiodothyronine (fT3: 31.45 pmol/L ± 3.99) at diagnosis in comparison with those who developed neutropenia (26.29 pmol/L ± 12.96; p = 0.07) and those without neutropenia before and during therapy (23.12 pmol/L ± 13.7; p = 0.003). Thirty-eight patients (23.6%) became neutropenic (ANC: 1479/µL ± 262) while receiving ATD. Neutropenia occurred after a mean of 551.8 (range: 10-1376) days, mostly without further deterioration. Two of these 38 patients developed agranulocytosis and underwent emergency thyroidectomy. The patients with neutropenia were significantly younger (p = 0.031). Neutropenia occurred significantly more often in patients receiving CBZ (50%; n = 20/40) than in those receiving MMI (16.5%; n = 18/110; p = 0.001). The minimum ANC was significantly lower in the CBZ (1971/µL ± 1008) than in the MMI group (2546 ± 959); p = 0.004. Conclusions: Neutropenia occurred significantly more often under CBZ than MMI. As this is potentially due to higher immunogenicity, we suggest that children with GD should be treated with MMI. Frequent measurements of ANC may be needed to detect severe agranulocytosis, although low pre-treatment ANC may not necessarily be a contraindication to ATD treatment. Young age may be potentially associated with an increased risk of reduced ANC. Further investigation is necessary to fully understand risk factors for neutropenia in children with GD.

Whole Genome Sequence of a Novel Bacteriophage APT65 Infecting Aeromonas hydrophila.

Background: Aeromonas hydrophila is a prevalent pathogenic bacterium in aquaculture that causes economic loss around the world. Antimicrobials are used to control and prevent the incidence of bacterial pathogens in aquaculture. However, they lead to the emergence of antimicrobial resistance strains and the accumulation of antibiotic residues in fish tissue. To address these issues, bacteriophages may be promising alternatives to many antibiotics in combating bacterial infections in aquaculture. Materials and Methods: The phage specific to A. hydrophila was isolated from domestic wastewater. The morphology of phages was analyzed using transmission electron microscopy. The genomic DNA of the Aeromonas phage T65 strain (APT65) phage was sequenced with a paired-end read length of 2 × 150 bp. The genome sequence was assembled and annotated. The tRNAs were predicted, and antimicrobial resistance and virulence genes were screened. A representation of the APT65 genome was constructed. Results: The genome of APT65 is linear double-stranded DNA with 85188 base pairs having 116 open reading frames (ORFs) and a G + C content of 39.41%. The 32 ORFs were predicted to encode proteins with known phage functions. No virulence factors, antibiotic resistance genes, or temperate lifestyle genes were found. The phage is icosahedral and measures 60 nm in diameter. Based on the whole genome sequence, APT65 belongs to Lahexavirus. Conclusions: The taxonomic analysis of the phage with a genome length of 85,188 bp revealed that it is a new species of the genus Lahexavirus. We announce the whole genome sequence of APT65, which should be named Lahexavirus APT65, as well as the absence of antimicrobial resistance and virulence factors from its genome. Based on our results, the Lahexavirus APT65 phage may have potential as a therapeutic agent to tackle antimicrobial resistance in aquaculture.

The first outbreak of citrobacteriosis caused by Citrobacter gillenii in reared Russian sturgeon (Acipenser gueldenstaedtii) in Turkiye.

Russian sturgeon (Acipenser gueldenstaedtii) is an endangered fish species and also an important resource for the sturgeon aquaculture industry in Turkiye. Recently, a fatal and persistent bacterial disease occurred in the reared sturgeon kept in a trout farm in Turkiye. The disease outbreak has been with notable external signs including petechial hemorrhages and systemic anemia. This outbreak lasted for six weeks, and cumulative mortality reached around 35.00 - 40.00%. In this study, no parasitic and viral agents were observed in the sturgeons. Citrobacter gillenii was isolated from the diseased fish and identified by biochemical and molecular methods including API 20E and 20NE and 16S rRNA gene region sequencing, respectively. As a result, C. gillenii was identified for the first time in Russian sturgeon in Turkiye. The sequence was also deposited under the Genbank with MW057770 accession number. According to the result of disc diffusion method, bacteria were sensitive to enrofloxacin, streptomycin, amoxicillin and oxytetracycline and resistant to penicillin, trimethoprim/sulfamethoxazole, florfenicol and erythromycin. Also, ampC, sul1 and floR resistance genes were detected in the isolated bacteria. The results of this study provide important information for the diagnosis and treatment of this newly emerged disease of Russian sturgeon.

A Rare Cause of Autistic Regression in a Boy with Down Syndrome: Hashimoto Encephalopathy.

BACKGROUND: Hashimoto encephalopathy (HE) is a rare condition associated with autoimmune thyroid disease. We aimed to report the youngest patient with Down syndrome and HE with an unusual presentation. CASE REPORT: Six years and six months old boy with Down syndrome admitted due to loss of speech. His physical development was appropriate for his age and had no goiter. Neurological examination revealed the absence of eye contact and stereotypic movements. Autism spectrum disorder was considered based on his result on Gilliam autism evaluation scale. He had subclinical hypothyroidism with markedly elevated anti-thyroid peroxidase antibody level, rare spikes in the frontocentral area were found in electroencephalography, and cranial magnetic resonance imaging was normal. Neurologic improvement was observed to a treatment with glucocorticoid and thyroid hormone. CONCLUSION: HE might be considered in patients with Down syndrome along with progressive cognitive decline and autistic regression.

Impact of eating habits and nutritional status on children with autism spectrum disorder.

OBJECTIVES: Obesity is common among children with Autism Spectrum Disorder (ASD). They suffer more feeding problems than children with normal developmental milestones. Several kinds of diet are recommended for children with ASD. This study determines the frequency of eating disorders and obesity among such children. We investigate the predisposing factors of eating disorders and examine the effects of consumed food on autism scores. METHODS: In this single-centre, cross-sectional study, 46 children with ASD aged between 2 and 10 years were included. Anthropometric measurements were recorded and Brief Autism Mealtime Behavior Inventory (BAMBI), Autism Behavior Checklist (ABC), and Food Frequency Questionnaire (FFQ) forms were filled in by their parents. RESULTS: The rates of being overweight and obese were 10.9% and 28.3%, respectively. Food selectivity was observed in 84.8% of the children, and BAMBI food refusal scores were significantly higher for those aged between 2 and 5 years (p = 0.03). Autism scores and consumption of milk, yoghurt, oily seeds, rice/pasta, and fruits (p < 0.05) were significantly correlated. There were also significant differences between these scores and the frequency of consuming eggs, legumes, and other cereals (p < 0.05). CONCLUSION: Obesity was more common in children with ASD than typically developed children. Despite the high rate of food selectivity, our findings confirmed that food selectivity could be considered independent of obesity. Further, the diet of patients with ASD must include more fruits, yogurt, eggs, legumes, other cereals, less milk, and less rice/pasta.

Evaluation of hydration status of children with obesity-a pilot study.

OBJECTIVES: To compare the hydration status between children with obesity and normal-weighted children and to determine whether obesity is related to less water consumption. METHODS: Children aged between 7 and 18 years with obesity (Group 1, n=31) were compared with nonobese healthy volunteers (Group 2, n=30) in terms of body composition analysis, urine density and daily fluid intake. RESULTS: The fluid intake per body surface of Group 1 was found significantly less than Group 2 (p<0.001). The urine density was found significantly higher in Group 1 (1020 (10) vs. 1015(10), p<0.001). Subjects in Group 1 had a higher percentage of body fat (p<0.001), lower percentages of total body water and fat-free mass (p=0.007 and <0.001, respectively). While 55% of subjects in Group 1 satisfied the recommended daily fluid intake, this was 80% in Group 2 (p=0.036). The consumption of SSBs was 71% in Group 1 and 20% in Group 2, with higher amount in Group 1 (median 200 vs. 0 mL, p<0.001). CONCLUSIONS: Children with obesity had less fluid consumption, lower TBW percentages and higher urine density. The results of this cross-sectional study showed that children with obesity were less hydrated than normal weighted children.

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Objective: Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by nonautoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing. Methods: Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated. Homozygosity mapping was performed, followed by whole-exome sequencing of WFS1. Mutations were classified according to results of "in silico" analyses, protein prediction, and functional consequences. Results: Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c.1522_1523delTA) mutations in WFS1. All mutations were predicted to cause stop codon leading to early termination of protein synthesis and complete loss-of-function. All patients were found to be homozygous for the change, with parents and other unaffected siblings being carriers. Conclusion: Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.

Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.

CONTEXT: Hypophosphatemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3. OBJECTIVE: A large kindred with 5 HR patients was recruited with dominant inheritance. The study was undertaken to investigate underlying genetic defects in HR patients. DESIGN: Patients and their family members were initially analyzed for PHEX and FGF23 mutations using polymerase chain reaction sequencing and copy number analysis. Exome sequencing was subsequently performed to identify novel candidate genes. RESULTS: PHEX and FGF23 mutations were not detected in the patients. No copy number variation was observed in the genome using CytoScan HD array analysis. Mutations in DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3 were also not found by exome sequencing. A novel c.979-96 T>A mutation in the SGK3 gene was found to be strictly segregated in a heterozygous pattern in patients and was not present in normal family members. The mutation is located 1 bp downstream of a highly conserved adenosine branch point, resulted in exon 13 skipping and in-frame deletion of 29 amino acids, which is part of the protein kinase domain and contains a Thr-320 phosphorylation site that is required for its activation. Protein tertiary structure modelling showed significant structural change in the protein kinase domain following the deletion. CONCLUSIONS: The c.979-96 T>A splice mutation in the SGK3 gene causes exon 13 skipping and deletion of 29 amino acids in the protein kinase domain. The SGK3 mutation may cause autosomal dominant HR.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

PURPOSE: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases. METHODS: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations. RESULTS: We observed a variability in skeletal, neurological and immune phenotypes, which was sometimes marked even between affected siblings. In total, 22 of 26 patients manifested autoimmune disease, most frequently autoimmune thrombocytopenia and systemic lupus erythematosus. Four patients were considered to demonstrate no clinical autoimmune disease, although two were positive for autoantibodies. In the majority of patients tested we detected upregulated expression of interferon-stimulated genes (ISGs), in keeping with the autoimmune phenotype and the likely immune-regulatory function of the deficient protein tartrate resistant acid phosphatase (TRAP). Two mutation positive patients did not demonstrate an upregulation of ISGs, including one patient with significant autoimmune disease controlled by immunosuppressive therapy. CONCLUSIONS: Our data expand the known phenotype of SPENCD. We propose that the OMIM differentiation between spondyloenchondrodysplasia and spondyloenchondrodysplasia with immune dysregulation is no longer appropriate, since the molecular evidence that we provide suggests that these phenotypes represent a continuum of the same disorder. In addition, the absence of an interferon signature following immunomodulatory treatments in a patient with significant autoimmune disease may indicate a therapeutic response important for the immune manifestations of spondyloenchondrodysplasia.

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.

OBJECTIVE: Mutations in the KATP channel genes is the most common cause of congenital hyperinsulinism (CHI) of infancy. Our aim was to report the clinical and genetic characteristics, treatment modalities, and long-term prognosis of patients with CHI. METHODS: Clinical and biochemical findings, operation procedures, and results of genetic analysis were retrospectively evaluated in 22 CHI patients from two pediatric endocrine centers in Turkey. RESULTS: Seven of the patients were born large for gestational age. Hypoglycemia was diagnosed within the first 24 hours of life in 9 patients and treatment with diazoxide (n=21) and/or somatostatin (n=8) had been attempted. Seven patients (31.8%) were unresponsive to medical treatment and underwent pancreatectomy. Histological examination of the pancreas confirmed diffuse disease in 6 patients. Diabetes developed in 3 patients following pancreatectomy (10 years, 2.5 years, and immediately after operation). The remaining four patients had neither recurrence of CHI nor of diabetes during the 3.67±0.7 years of follow-up. Sequence analysis identified mutations in 12 out of 19 patients (63%). Mutations in the ABCC8 gene were the most common finding and were found in 6 out of 7 patients who underwent pancreatectomy. Other mutations included a paternally inherited KCNJ11 mutation, a homozygous HADH mutation, and a heterozygous GLUD1 mutation. CONCLUSION: Mutations in the ABCC8 gene were the most common cause of CHI in our cohort. These mutations were identified in 85% of patients who underwent pancreatectomy. The development of diabetes mellitus after pancreatectomy may occur at any age and these patients should be screened regularly.

Perinephric adipose tissue thickness in relation to blood pressure, plasma apelin and C-reactive protein levels in obese adolescents.

BACKGROUND: Visceral adiposity plays an important role in the pathogenesis of obesity related hypertension. Measurement of perinephric adipose tissue (PNAT) thickness has not been studied yet. We aimed to define the relation of PNAT with hypertension, and to investigate its correlations with apelin and C-reactive protein. METHODS: Sixty obese adolescents (33 females, 27 males) with a mean age of 14.0±0.8 years and 29 age-matched lean controls were recruited. Obese subjects were divided as hypertensive (Group 1) and normotensive (Group 2) using 24-hour ambulatory blood pressure monitoring. PNAT was measured using ultrasonography bilaterally. RESULTS: PNAT thickness was found increased by 0.5 mm for each point of increase in body mass index (BMI). Plasma apelin levels were significantly higher in Groups 1 and 2 than those in control group (P<0.001 and P=0.001, respectively). In Group 1 BMI, plasma insulin and cortisol levels were significantly higher. Apelin was positively correlated with BMI and PNAT (P<0.001 for both), and negatively correlated with pubertal stage (ρ=-0.313, P=0.003) and age (ρ=-0.250; P=0.018). CONCLUSIONS: This is the first study showing direct correlation between PNAT and BMI and also between apelin and BMI in obese adolescents. Hypertension in adolescence is related to degree of obesity. While plasma apelin increases in obesity, it decreases with increasing age and pubertal stage.

Higher body fat and lower fat-free mass in girls with premature adrenarche.

OBJECTIVE: Idiopathic premature adrenarche (PA) refers to presence of androgenic signs before the age of eight years in girls in the absence of thelarche. In children with PA, increased adrenal androgens lead to changes in body composition and transient growth acceleration. Although the association between PA and some components of the metabolic syndrome is well known, body composition has not been extensively studied in these patients. METHODS: We examined 47 girls with PA with a median age of 7.39 years and 57 healthy controls with a median age of 7.11 years. For PA group, the inclusion criteria were appearance of pubic/axillary hair before 8 years of age, absence of findings of central puberty and absence of use of any medication. Patients with steroidogenic enzyme defects and virilizing tumors were excluded. Height, body weight, waist and hip circumference were measured. The bioelectrical impedance method was used for body composition analysis. RESULTS: In the PA group, both body weight standard deviation score (SDS) and height SDS were significantly higher than in the controls (p<0.001 for both). While total body fat percentage values were significantly higher in the PA group than in the controls (median 22.8% vs. 19.95%, p=0.049), fat-free mass (FFM) and total muscle mass percentages were significantly lower than in the controls (median 76.8% vs. 79.9%, p=0.024 and 72.6% vs. 75.7%, p=0.018, respectively). CONCLUSION: Our findings revealed that girls with PA have higher body weight and height for age values. They also show significant changes in body composition such as an increase in total body fat percentage with a concomitant decrease in the percentages of FFM, muscle mass and total body water.

Gonadotropin releasing hormone analog treatment in children with congenital adrenal hyperplasia complicated by central precocious puberty.

OBJECTIVE: Congenital adrenal hyperplasia (CAH) can be complicated by central precocious puberty (CPP) in children, which may compromise final height. We aimed to evaluate the effect of gonadotropin-releasing hormone analog (GnRHa) therapy on growth in children with CAH. DESIGN: Twelve children with CAH were enrolled in a follow-up study. Eight patients underwent the GnRH stimulation test. GnRHa-treatment was administered at 3.75 mg every 4 weeks; the dose had to be increased to 7.5 mg in three patients. Bone age, growth velocities and body mass index of the patients were monitored during treatment. RESULTS: Median chronologic age and bone age at diagnosis were 6.8 (3.5) years and 11 (1.2) years, respectively. Median follow-up was 4.4 (4.9) years. A significant difference was found in the median ratio of bone age to chronological age between diagnosis and last visit (p=0.005) and between the beginning of GnRHa treatment and last visit (p=0.004). Median growth velocity was 4 (2.5) cm, 3.4 (5.2) cm and 5.5 (5.5) cm at the end of the first, second and third years of the therapy, respectively. Second-year growth velocity was inversely correlated with median bone age at diagnosis (rho:-0.758, p=0.004) and at the initiation of therapy (rho:-0.876, p<0.001). CONCLUSION: GnRHa therapy should be considered for augmentation of linear growth and diminishment of bone age advancement in children with CAH complicated by CPP, particularly in children who do not have extremely advanced bone age for chronological age.

The debate on the link between subclinical hypothyroidism and childhood migraine: is initial endocrinological evaluation necessary for children with migraine?

Subclinical hypothyroidism (SH) is characterized by mildly elevated thyroid stimulating hormone (TSH) levels with normal serum-free thyroxine (fT4). While the prevalence of SH is 2 % in pediatric population, it has been reported much higher in children with migraine headache. In this study, the presence of subclinical hypothyroidism and associated endocrinological abnormalities in children with migraine naïve to treatment was investigated. Children with migraine who were diagnosed in Pediatric Neurology Clinic based on the second edition of the International Classification of Headache Disorders and who did not receive any medication were recruited in this cross-sectional study. All patients were examined by the same pediatric endocrinologist and anthropometric measurements, systemic blood pressure, pubertal stages were recorded. Fasting serum levels of thyroid function tests, lipids, glucose and insulin were obtained. Ninety-eight children (55 female) with a mean age of 11.45 ± 3.1 years were evaluated. Of those, 39 were prepubertal and 59 were pubertal. Subclinical hypothyroidism (TSH ≥ 5.0 mIU/L with normal fT4) was detected in five patients (5.1 %); none had positive thyroid antibodies. Other conditions were obesity (n = 6), hirsutism (n = 4), short stature (n = 3), polycystic ovaries (PCO, n = 3), precocious puberty (n = 2) and gynecomastia (n = 1). Of five patients with SH, only one had obesity. Our results revealed that the prevalence of SH in children with migraine is not as high as previously reported. Since no significant endocrinologic disturbance was found in those children, we suggest that the initial endocrinological evaluation or screening for SH is unnecessary.

Should patients with Down syndrome be screened for testicular microlithiasis?

BACKGROUND: Testicular microlithiasis (TM) is a rare condition characterized by asymptomatic calcification of seminiferous tubules and is considered as a precursor of testicular germ cell tumors. The prevalence of TM has been reported higher in patients with Down syndrome (DS) than general population. Our aim was to determine the prevalence of TM in our patients with DS. PATIENTS AND METHODS: Male patients with DS confirmed by chromosomal analysis were prospectively evaluated using high resonance ultrasound. For every patient with DS, an age-matched healthy non-DS volunteer was recruited and the results were compared. RESULTS: A total of 50 testes from 25 patients between the age of newborn and 19.3 years were studied. While nine patients with DS (36%) had TM, none of controls had TM. Mean testicular volumes (TVs) of patients with DS did not differ significantly from the control group. In DS group, patients with TM were significantly older than patients without TM (mean age was 8.44 years [range, 2.0-19.3 years] and 2.39 years [range, 0.1-12.1 years], respectively, p = 0.002). TM was found positively correlated with age (r = 0.568, p = 0.003). Cryptorchidism was found in five patients in DS group (three unilateral and two bilateral) and in two controls (one unilateral and one bilateral). Of the nine patients with TM, only one patient had cryptorchidism; thus, TM was not found to be related with cryptorchidism. All the nine patients with DS and TM had normal serum levels of α-fetoprotein and ß-human chorionic gonadotropin. CONCLUSION: On the basis of the high prevalence found in our study, we suggest that all male patients with DS should be screened for TM in childhood.

Epilepsy treatment by sacrificing vitamin D.

Epilepsy is one of the most common neurologic disorders in childhood that often requires long term treatment with antiepileptic drugs. Both antiepileptic treatment and the comorbidities associated with epilepsy have a negative impact on bone health in growing children. Given the fact that vitamin D deficiency is a major public health problem worldwide, clinicians caring for children with chronic diseases should be aware of effects of the medication on the bone metabolism. Yet, vitamin D deficiency due to antiepileptic treatment is an overlooked issue among neurologists. In this review, we briefly describe vitamin D metabolism and the effect of vitamin D in the brain. We also discuss the literature in terms of vitamin D deficiency and antiepileptic treatment in the pediatric population.