Search

Objective: To investigate the effects of treatment with gonadotropin-releasing hormone analog (GnRHa) on final height in girls who experienced moderately early puberty with symptoms beginning at 7-8.5 years of age., Methods: Female cases diagnosed with moderately early puberty which had started between ages 7 to 8.5 years were included in the study. In the treatment groups, all cases with a bone age ≤10.5 years constituted group 1 (n=18) and those with a bone age >10.5 years constituted group 2 (n=23). The 8 patients for which treatment approval could not be obtained constituted group 3. The 49 cases in all three groups were observed until they reached their final height., Results: Target height, target height standard deviation score (SDS), final height, and final height SDS values were similar in all 3 groups. Final height showed a significant positive correlation with target height (p=0.000, r=0.54) and height at diagnosis (p=0.003, r=0.467) in all groups. Linear regression analysis revealed that a 1 cm longer height at diagnosis increased the final height 0.213 fold, and a 1 cm longer target height at diagnosis increased the final height 0.459 fold., Conclusion: We found that GnRHa did not make a positive contribution to final height in cases of moderately early puberty.

Background: Isolated hyperinsulinaemic hypoglycaemia (HH) commonly results from recessively inherited mutations in the ABCC8 and KCNJ11 genes that are located on chromosome 11p15.1. More rarely, HH can feature in patients with Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder, resulting from defects at a differentially methylated region telomeric to the K-ATP channel genes at chromosome 11p15.5., Subject: We undertook genetic testing in a patient with diazoxide-unresponsive HH diagnosed at birth. Physical examination later revealed hemihypertrophy of the right arm, a feature of BWS., Results: We identified a novel mosaic, paternally-inherited KCNJ11 mutation(s) in the patient. Further analysis confirmed uniparental disomy (UPD) of chromosome 11, which extended across the KCNJ11 gene at 11p15.1 and the BWS locus at 11p15.5., Conclusion: These results highlight the importance of considering UPD as a mechanism of disease in patients with HH and a paternally inherited K-ATP channel mutation, especially when additional syndromic features are present., (© 2016 The Author(s) Published by S. Karger AG, Basel.)

Objective: Idiopathic short stature (ISS) constitutes a heterogeneous group of short stature which is not associated with an endocrine or other identifiable cause. Some ISS patients may have varying degrees of insulin-like growth factor-1 (IGF-1) deficiency. Recombinant growth hormone (rGH) treatment has been used by some authors with variable results. Reports on long-term rGH treatment are limited., Methods: In this study, 21 slowly growing, non-GH-deficient ISS children who received rGH treatment for 3.62±0.92 years were evaluated at the end of a 5.42±1.67-year follow-up period. The study group included patients with low IGF-1 levels who also responded well to an IGF generation test. The patients were divided into two groups as good responders [height increment >1 standard deviation (SD)] and poor responders (height increment <1 SD) at the end of the follow-up period., Results: The height of the patients improved from -3.16±0.46 SD score (SDS) to -1.9±0.66 SDS. At the end of the follow-up period, mean height SDS was -1.72. Eleven of the patients showed a good response to treatment. Clinical parameters were essentially similar in the good responders and the poor responders groups. A female preponderance was noted in the good responders group., Conclusion: rGH treatment can safely be used in ISS children. Long-term GH treatment will ameliorate the height deficit and almost 40% of patients may reach their target height.

Unlike other congenital fatty acid oxidation defects, short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods. The long-term and detailed clinical progression of the disease is largely unknown with almost 40 patients reported and only a few patients described clinically. We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression.

Study Objective: Polycystic ovary syndrome (PCOS) is a disorder without definite consensus on its diagnosis and management during adolescence. According to Amsterdam-2012 consensus, as physiological characteristics of adolescence may overlap with PCOS signs, it has been indicated that all Rotterdam criteria should be met. In this present study, characteristics of adolescents with different phenotypes who were diagnosed with PCOS were evaluated; and presence of differences for metabolic risk factors between phenotypes were investigated., Design: The study was performed on adolescent females. According to phenotypic application models, individuals with all Rotterdam diagnostic criteria [hyperandrogenism (HA), polycystic ovarian morphology (PCOM), and chronic anovulation (CA) on the ultrasonography] were in Group 1 (n = 26); with HA and CA were in Group 2 (n = 10); with HA and PCOM were in Group 3 (n = 7); and with CA and PCOM were in Group 4 (n = 10)., Results: The most common application complaint (87%) among 53 cases enrolled in the study was menstrual irregularities, and 57% of cases were not obese. When PCOS was evaluated according to phenotypes, it was realized that cases that meet all 3 diagnostic Rotterdam criteria according to the current recommendation in adolescents. (Group 1) was the most common phenotype. Hyperandrogenism was associated with more metabolic abnormalities., Conclusion: The close monitoring of adolescents, who have 2 diagnostic criteria is advisable among PCOS phenotypes. Potentially Groups 2 and 3 which have hyperandrogenism, in particular should warrant closer follow-up although they do not meet current diagnostic criteria for adolescents., (Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Study Objective: The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort., Participants: The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD., Results: Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness., Conclusion: 46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure., (Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

A very rare syndrome of rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) has been recently described as causing morbidity due to hypothalamic dysfunction and respiratory arrest. Its prognosis is poor and often cardiac arrest occurs due to alveolar hypoventilation. This disorder can mimic genetic obesity syndromes and several endocrine disorders. We present a 13-year-old female patient who was reported to be healthy until the age of 3 years. She was admitted to our emergency department, presenting with respiratory distress. Features matching ROHHAD syndrome such as rapid-onset obesity, alveolar hypoventilation, central hypothyroidism, hyperprolactinemia, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient. In addition to these features, the patient was found to have hypergonadotropic hypogonadism and megaloblastic anemia. Because of its high mortality and morbidity, the possibility of ROHHAD syndrome needs to be considered in all pediatric cases of early- and rapid-onset obesity associated with hypothalamic-pituitary endocrine dysfunction.

Background: Steroidogenic factor-1 (SF-1) gene (NR5A1) mutations cause disorders of sexual development due to gonadal dysgenesis, particularly in 46,XY individuals. In cases exhibiting this mutation, the phenotype is heterogeneous, and it may vary within a spectrum ranging from complete female appearance to an infertile male. Virilization observed in some cases in the pubertal age group may lead to diagnostic difficulties., Case: The present case report describes the clinical, histopathologic, and genetic characteristics of a 46,XY case, who was born with a female phenotype and raised as a girl, presented with findings of virilization in the pubertal period. She had no germ cells and very few Leydig cells with atrophic testis on biopsy and in whom a novel heterozygous mutation in the SF-1 gene (a heterozygous 7-bp deletion mutation in exon 7 [c.1308-1314del7bp] causing frameshift) was identified., Summary and Conclusion: Although the gonads are very dysgentic in patient with SF-1 mutations, sufficient androgen synthesis can cause severe virilization during puberty., (Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Background/aims: The aim of this study is to figure out defecation features, constipation frequency, reasons and factors effecting on functional constipation in 0-6 years old children., Material and Methods: This descriptive study had been carried out in Gazi University School of Medicine Pediatric polyclinics between February-June 2007 and 1018 children aged 0-6 years were included. The study comprises data about defecation pattern and prevalence of constipation. Children were divided into five groups according to the age. Their parents were asked to complete a structured questionnaire. Physical examinations, stool frequency according to the age, feeding patterns, age and gender distributions, major complaints and associated factors were all investigated., Results: Among 1018 children there were 526 (51.7%) boys and 492 (48.3%) girls. One hundred ninety five (88.2%) infants were exclusively breastfed, 42 children (17.8%) were getting additional feeding in 0-6 months age group. Forty-eight of 1018 children (4.7%) were diagnosed as constipated. Twenty-eight (58.3%) were male and 20 (41.7%) were female. Parents of the constipated children defined the major complaints with defecation as discomfort (33%), pain (25%), seldom defecation (21%), hard stools (17%) and rectal bleeding (4%). Eighteen parents (37.5%) thought that constipation is related to dietary type. Refraining from school toilet was defined by seven parents (14.6%)., Conclusion: Constipation may predict serious organic problems in newborns; however organic problems are not encountered in 95% of bigger children. These cases are described as functional constipation. Dietary factors and refraining from school toilets have to be considered during treatment.