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

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

Molecular analysis of PIT1, PROP1, LHX3, and HESX1 in patients with combined pituitary hormone deficiency: multicenter study

WOS: 000270489901180

Biopsychosocial variables associated with gender of rearing in children with male pseudohermaphroditism

Yilmaz, Savas/0000-0003-2540-5808WOS: 000247260700001PubMed: 17566875Objective: The effect of parental rearing on gender identity development in children with ambiguous genitalia remains controversial. The present study aimed to address this issue by investigating the factors that may be associated with sex of rearing in children with male pseudohermaphroditism. Method: The study included 56 children with male pseudohermaphroditism that were consecutively referred to a child psychiatry outpatient clinic. At the time of referral the age range of the sample was 6 months-14 years, 28 children hod been raised as boys and 28 as girls. Demographic and biological information was obtained from patient charts. An intersex history interview was administered to the children and parents, whereas The Gender Identity Interview and the Draw-A-Person Test were administered only to the children. The children were observed during free play. Comparisons of biological, psychological and social variables were made with respect to gender of rearing. Results: More children reared as boys were younger at time of referral, belonged to extended families, and had higher Proder scores. Although children's gender roles were appropriate for their gender of rearing, findings of the Gender Identity Interview and the Draw-A-Person Test suggested that some of the girls presented with a male or neutral gender self-perception. Conclusion: The relationships between age at the time of problem identification, age at the time of diagnosis, and gender of rearing indicate the importance of taking measures to ensure that the intersex condition is identified at birth and children ore referred for early diagnosis, gender assignment, and treatment

Serum IGF-1 and IGFBP-3 levels in healthy Turkish children between 0-6 years of age

WOS: 000270489900769

Molecular analysis of PIT1, PROP1, LHX3, and HESX1 in patients with combined pituitary hormone deficiency: multicenter study

siklar, zeynep/0000-0003-0921-2694;WOS: 000270489901180

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Spondyloocular syndrome is an autosomal-recessive disorder with spinal compression fractures, osteoporosis, and cataract. Mutations in XYLT2, encoding isoform of xylosyltransferase, were recently identified as the cause of the syndrome. We report on 4 patients, 2 unrelated patients and 2 siblings, with spondyloocular syndrome and novel mutations in XYLT2. Exome sequencing revealed a homozygous nonsense mutation, NM_022167.3(XYLT2): c.2188C>T, resulting in a premature stop codon (p.Arg730*) in a female patient. The patient presents visual impairment, generalized osteoporosis, short stature with short trunk, spinal compression fractures, and increased intervertebral disc space and hearing loss. We extended our XYLT2 analysis to a cohort of 22 patients with generalized osteoporosis, mostly from consanguineous families. In this cohort, we found by Sanger sequencing 2 siblings and 1 single patient who were homozygous for missense mutations in the XYLT2 gene (p.Arg563Gly and p.Leu605Pro). The patients had osteoporosis, compression fractures, cataracts, and hearing loss. Bisphosphonate treatment in 1 patient resulted in almost complete normalization of vertebral structures by adolescence, whereas treatment response in the others was variable. This report together with a previous study shows that mutations in the XYLT2 gene result in a variable phenotype dominated by spinal osteoporosis, cataract, and hearing loss. (C) 2016 American Society for Bone and Mineral Research