Congenital adrenal hyperplasia patient perception of `disorders of sex development¿ nomenclature
Conclusions: Our results indicate that the majority of parents and patients with CAH are dissatisfied with the term DSD. Our results highlight the challenges within the field of DSD to reach a consensus regarding a sensitive topic and to bridge the gap between current medical practice and patient satisfaction. It is the authors’ belief that reconsideration of the current nomenclature and ongoing dialogue between the medical community and patients will eventually lead to removal of stigmatization, better management protocols, and improved outcomes. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - March 16, 2015 Category: Endocrinology Authors: Karen Lin-SuOksana LekarevDix PoppasMaria Vogiatzi Source Type: research

Reviewer acknowledgement 2014
Contributing reviewersThe Editors of the International Journal of Pediatric Endocrinology would like to thank all of our reviewers, both external and Editorial Board Members, who have contributed to the journal in Volume 2014 (2014) and whose valuable support is fundamental to the success of the journal. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - February 28, 2015 Category: Endocrinology Authors: Scott Rivkees Source Type: research

Patterns of thyroid hormone levels in pediatric medullary thyroid carcinoma patients on vandetanib therapy
Conclusions: In our cohort of pediatric MTC patients, athyreotic patients with preexisting hypothyroidism developed increased TSH and reduced free T4 during the first few months of treatment with vandetanib, necessitating an increase in LT dosage. Additional patients with normal thyroid function before treatment and intact glands (n = 2) maintained normal thyroid function tests during treatment. Elevated TSH in athyreotic patients may be due to an indirect effect of vandetanib on the metabolism of thyroid hormone, or to altered TSH sensitivity at the pituitary. Proper recognition and management of abnormal thyroid hormone ...
Source: International Journal of Pediatric Endocrinology - February 16, 2015 Category: Endocrinology Authors: Maya LodishAlexandra GkourogianniEthan BornsteinNinet SinaiiElizabeth FoxMeredith ChukLeigh MarcusSrivandana AkshintalaFrank BalisBrigitte WidemannConstantine Stratakis Source Type: research

A randomized pilot trial of growth hormone with anastrozole versus growth hormone alone, starting at the very end of puberty in adolescents with idiopathic short stature
Background: When given during the course of puberty, anastrozole (A), an aromatase inhibitor, has been shown to increase the predicted adult height (PAH) of GH-deficient (GHD) boys treated with recombinant human growth hormone (rhGH). Our study questioned whether this treatment could retain some of its effects in non-GHD adolescent boys if started only at the very end of puberty, a time when rhGH treatment is denied to short adolescents who have almost reached their final height.ObjectiveTo explore the effect on adult height of a combination of rhGH and A, compared with rhGH alone, at the end of puberty in boys with idiopa...
Source: International Journal of Pediatric Endocrinology - February 16, 2015 Category: Endocrinology Authors: Anya RothenbuhlerAgnès LinglartPierre Bougnères Source Type: research

Increased height standard deviation scores in response to growth hormone therapy to near-adult height in older children with delayed skeletal maturation: results from the ANSWER Program
In this study, children with growth hormone deficiency (GHD) (including isolated idiopathic growth hormone deficiency [IGHD] and multiple pituitary hormone deficiency [MPHD]), idiopathic short stature (ISS), and Turner syndrome (TS) were evaluated for near-adult height (NAH) and percent achieving NAH within the normal range after approximately 4 years of GHT. Methods: Data from the American Norditropin(R) Studies: Web-Enabled Research (ANSWER) Program were analyzed for NAH from age at treatment start (ATS) (i.e., referral age as defined by age at enrollment in the study) to last clinic visit using one of the following two ...
Source: International Journal of Pediatric Endocrinology - January 15, 2015 Category: Endocrinology Authors: Judith RossPeter LeeRobert GutJohn Germak Source Type: research

Adiponectin/resistin levels and insulin resistance in children: a four country comparison study
Conclusions: We conclude that serum adiponectin concentrations are lower in Asian as compared to Italian and American children, and that adiponectin but not resistin contributes to differences in markers for insulin resistance in children from different populations. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - January 15, 2015 Category: Endocrinology Authors: Koji TakemotoRichard DeckelbaumIsao SaitoSupawadee LikitmaskulAnita MorandiLeonardo PinelliEiichi IshiiKaichi KidaMarwah Abdalla Source Type: research

Congenital hyperinsulinism: Clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy
Conclusion: Biallelic ABCC8 mutations may result in diazoxide-responsive CHI. Irrespective of the molecular genetic analysis results, accurate assessment of the response to diazoxide should be undertaken before classifying a patient as diazoxide-responsive or unresponsive CHI. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - December 15, 2014 Category: Endocrinology Authors: Ved AryaQadeer AzizAzizun NessaAndrew TinkerKhalid Hussain Source Type: research

GPS suggests low physical activity in urban Hispanic school children: a proof of concept study
Conclusions: Levels of moderate and vigorous intensity PA, measured by GPS, were extremely low in these urban Hispanic youth, possibly contributing to high rates of obesity and IR. Physical movement patterns suggest barriers to PA in play options near home, transportation to school, and in school recess time. GPS technology can objectively and accurately evaluate initiatives designed to reduce obesity and its morbidities by increasing PA. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - December 15, 2014 Category: Endocrinology Authors: Aaron CarrelJeffrey SledgeStephen VenturaJens EickhoffDavid Allen Source Type: research

A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature
Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of the hyperthyroid symptoms is variable and phenotype differences have been described in subjects harboring the same mutation. This paper describes a family with a mutation in codon 431 of the thyroid stimulating hormone receptor gene. This is the most common activating mutation in the thyroid stimulating hormone receptor gene with total of 13 patients harboring the mutation in four families. The similarities and diffe...
Source: International Journal of Pediatric Endocrinology - November 17, 2014 Category: Endocrinology Authors: Cæcilie LarsenLefkothea KaravitiVictor SeghersRoy WeissSamuel RefetoffAlexandra Dumitrescu Source Type: research

Effects of recombinant human growth hormone (rhGH) administration on body composition and cardiovascular risk factors in obese adolescent girls
Conclusions: Administering rhGH in small doses is able to stabilize IGF-1 levels in obesity. We have also shown that rhGH administration leads to an improvement in some markers of cardiovacular risk with without adversely affecting glucose tolerance.Trial registration: Clinical Trial Registration Number: NCT01169103. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - November 15, 2014 Category: Endocrinology Authors: Meghan SlatteryMiriam BredellaTakara StanleyMartin TorrianiMadhusmita Misra Source Type: research

Intrauterine growth restriction and hypospadias: is there a connection?
Hypospadias is one of the most common congenital malformations of the genitourinary tract in males. It is an incomplete fusion of urethral folds early in fetal development and may be associated with other malformations of the genital tract. The etiology is poorly understood and may be hormonal, genetic, or environmental, but most often is idiopathic or multifactorial. Among many possible risk factors identified, of particular importance is low birth weight, which is defined in various ways in the literature. No mechanism has been identified for the association of low birth weight and hypospadias, but some authors propose p...
Source: International Journal of Pediatric Endocrinology - October 15, 2014 Category: Endocrinology Authors: Min-Jye ChenCharles MaciasSheila GunnJennifer DietrichDavid RothBruce SchlomerLefkothea Karaviti Source Type: research

Eating behaviors in obese children with pseudohypoparathyroidism type 1a: a cross-sectional study
Conclusions: Patients with PHP-1a demonstrate hyperphagic symptoms similar to matched obese controls. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - October 15, 2014 Category: Endocrinology Authors: Lulu WangAshley Shoemaker Source Type: research

Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia
Conclusion: Successful treatment of hypoglycemia can be achieved and maintained with LAR in infants and children with BWS who are either resistant or cannot tolerate diazoxide. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - September 15, 2014 Category: Endocrinology Authors: Hiba Al-ZubeidiMichael GottschalkRon Newfield Source Type: research

Advances in diagnosis and care of persons with DSD over the last decade
This report discusses cultural and social forces, legal factors, surgical perspectives, treatment shifts including psychological approaches, progress regarding genetic diagnosis, gender issue comparisons with transgender patients, and on-going research studies occurring since the consensus conference. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - September 15, 2014 Category: Endocrinology Authors: Peter LeeAmy WisniewskiLaurence BaskinMaria VogiatziEric VilainStephen RosenthalChristopher Houk Source Type: research

A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature
This report emphasizes the importance of examining all family members when suspecting a genetic syndrome. It also demonstrates the therapeutic effect of GH treatment in TRPS I despite normal GH-IGF1 axis. A review of the literature is included to address whether TRPS I is associated with: a) GH deficiency, b) GH resistance, or c) GH-responsive short stature. More studies are needed before recommending GH treatment for TRPS I but a trial should be considered on an individual basis. (Source: International Journal of Pediatric Endocrinology)
Source: International Journal of Pediatric Endocrinology - August 15, 2014 Category: Endocrinology Authors: Lina MerjanehJohn ParksAndrew MuirDoris Fadoju Source Type: research