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Hormone Research in Pædiatrics

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https://read.qxmd.com/read/30970347/genetic-polymorphisms-associated-with-idiopathic-short-stature-and-first-year-response-to-growth-hormone-treatment
#1
Charmian A Quigley, Ying Grace Li, Milton R Brown, Sreekumar G Pillai, Poulabi Banerjee, Robin S Scott, Werner F Blum, John S Parks
BACKGROUND/AIMS: The term idiopathic short stature (ISS) describes short stature of unknown, but likely polygenic, etiology. This study aimed to identify genetic polymorphisms associated with the ISS phenotype, and with growth response to supplemental GH. METHODS: Using a case-control analysis we compared the prevalence of "tall" versus "short" alleles at 52 polymorphic loci (17 in growth-related candidate genes, 35 identified in prior genome-wide association studies of adult height) in 94 children with ISS followed in the Genetics and Neuroendocrinology of Short Stature International Study, versus 143 controls from the Fels Longitudinal Study...
April 10, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30947225/whole-exome-sequencing-revealed-a-novel-nonsense-variant-in-the-gnrhr-gene-causing-normosmic-hypogonadotropic-hypogonadism-in-a-pakistani-family
#2
Hafiz Muhammad Jafar Hussain, Ghulam Murtaza, Xiaohua Jiang, Ranjha Khan, Manan Khan, Mian Basit Shah Kakakhel, Teka Khan, Fazal Wahab, Huan Zhang, Yuanwei Zhang, Muhammad Bilal Khan, Parvez Ahmed, Hui Ma, Zhipeng Xu
BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is a heterogeneous disorder characterized by delayed or loss of puberty and infertility due to functional deficiency in the hypothalamic gonadotropin-releasing hormone (GnRH). CHH can be classified into 2 subtypes on the basis of olfaction: Kallmann syndrome and normosmic CHH (nCHH). The spectrum of genetic variants causing CHH is continually expanding. Here, we recruited a consanguineous Pakistani family having 2 male and 2 female infertile patients diagnosed with idiopathic nCHH...
April 4, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30947197/biological-significance-of-anti-gh-antibodies-in-children-treated-with-rhgh
#3
Gerhard Binder, Laura Heidenreich, Dirk Schnabel, Desirée Dunstheimer, Rudolf Oeverink, Wieland Kiess, Antje Körner, Jürgen Kratzsch
BACKGROUND: The occurrence of antidrug antibodies is common in children treated with recombinant human growth hormone (rhGH). However, their clinical significance is unclear. OBJECTIVE: This study aimed to examine the clinical significance of anti-GH antibodies by analyzing the phenotype of patients who tested positive in relation to the quantity of anti-GH antibodies. METHOD: In this laboratory-based retrospective study encompassing a time span of 6 years, all positive samples were identified, and senders were contacted...
April 4, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30939478/treatment-with-growth-hormone-in-noonan-syndrome-observed-during-25-years-of-kigs-near-adult-height-and-outcome-prediction
#4
Michael B Ranke, Anders Lindberg, Martin Carlsson, Cecilia Camacho-Hübner, Raoul Rooman
BACKGROUND/AIMS: There is little information how rhGH treatment affects height in NS. This study aims to analyze data from the NS patients assembled in KIGS over 25 years. PATIENTS/METHODS: Of 613 (389 m/224 f) NS patients documented, 476 (302 m/174 f) were treated for 1 year, 237 (160 m/77 f) of which served to develop a 1st year height velocity (HV) prediction algorithm. One-hundred and forty (74 m/66 f) had reached near adult height (NAH). Factors affecting NAH on rhGH were determined...
April 2, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30904905/the-bone-markers-sclerostin-osteoprotegerin-and-bone-specific-alkaline-phosphatase-are-related-to-insulin-resistance-in-children-and-adolescents-independent-of-their-association-with-growth-and-obesity
#5
Juraj Stanik, Jürgen Kratzsch, Kathrin Landgraf, Mandy Vogel, Joachim Thiery, Wieland Kiess, Antje Körner
BACKGROUND/AIMS: Sclerostin, osteoprotegerin, and bone-specific alkaline phosphatase (B-ALP), which are primarily related to bone metabolism, have been linked with insulin resistance in adults. We aimed to evaluate the association of these markers with growth, obesity, and parameters of insulin resistance in lean and obese children and adolescents. METHODS: We measured sclerostin, osteoprotegerin, and B-ALP in fasting and oral glucose tolerance test (oGTT) serum samples from 1,325 children and adolescents, and during 24-h profiles and after exercise and glucose exposure in young adults...
March 22, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30889588/rate-of-serious-adverse-events-associated-with-diazoxide-treatment-of-patients-with-hyperinsulinism
#6
Paul Thornton, Lisa Truong, Courtney Reynolds, Tyler Hamby, Jonathan Nedrelow
INTRODUCTION: Diazoxide is the first line and only Federal Drug Agency approved pharmacological agent for the treatment of hyperinsulinism. Its use has increased over the years to include patients with various genetic forms of hyperinsulinism, perinatal stress hyperinsulinism and infants of diabetic mothers with more babies than ever being exposed to this therapy. METHODS: We performed a retrospective analysis of 194 patients with hyperinsulinism in our clinic and looked for those who had experienced serious adverse events (SAE) including pulmonary hypertension and neutropenia...
March 19, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30889569/cyp21a2-gene-pathogenic-variants-a-multicenter-study-on-genotype-phenotype-correlation-from-a-portuguese-pediatric-cohort
#7
Rita Santos-Silva, Rita Cardoso, Lurdes Lopes, Marcelo Fonseca, Filipa Espada, Lurdes Sampaio, Carla Brandão, Ana Antunes, Graciete Bragança, Raquel Coelho, Teresa Bernardo, Paula Vieira, Rita Morais, Ana Luísa Leite, Luís Ribeiro, Berta Carvalho, Ana Grangeia, Renata Oliveira, Maria João Oliveira, Vicente Rey, Joana Rosmaninho-Salgado, Bernardo Marques, Ana Margarida Garcia, Andreia Meireles, Joana Carvalho, Ana Sequeira, Alice Mirante, Teresa Borges
BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), and non-classic (NC). We aimed at conducting a nationwide genotype description of the CAH pediatric patients and to establish their genotype-phenotype correlation. METHODS: CAH patients were recruited from Portuguese pediatric endocrinology centers and classified as SW, SV, or NC...
March 19, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30884480/hypothalamic-obesity-prologue-and-promise
#8
REVIEW
M Jennifer Abuzzahab, Christian L Roth, Ashley H Shoemaker
Hypothalamic obesity (HO) frequently occurs following damage to the medial hypothalamic region, encompassing the arcuate nucleus, the paraventricular nucleus, the ventromedial nucleus, the dorsomedial nucleus, and the dorsal hypothalamic area, which are critically involved in the regulation of satiety and energy balance through neural and humoral connections. HO is most commonly described in the context of craniopharyngioma and its treatment, but it can also occur following other suprasellar tumors, radiation, trauma, or a surgical insult to the hypothalamus...
March 18, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30879005/sotos-syndrome-presenting-with-neonatal-hyperinsulinaemic-hypoglycaemia-extensive-thrombosis-and-multisystem-involvement
#9
Manuela Cerbone, Emma Clement, Martin McClatchey, Joanna Dobbin, Clare Gilbert, Morgan Keane, Lamia Boukhibar, Hywel Williams, Andrey Gagunashvili, Mehul T Dattani, Jane Hurst, Pratik Shah
Initially described as an uncommon presenting feature of Sotos syndrome (SoS), over the last decades, congenital hyperinsulinaemic hypoglycaemia (CHI) has been increasingly reported in association with this condition. The mechanism responsible for CHI in SoS is unclear. We report the case of a neonate presenting with CHI and extensive venous and arterial thrombosis associated with kidney, heart, liver, skeleton, and brain abnormalities and finally diagnosed with SoS on whole genome sequencing. Our case describes an extended phenotype associated with SoS presenting with CHI (including thrombosis and liver dysfunction) and reinforces the association of transient CHI with SoS...
March 15, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30844819/plasma-c-type-natriuretic-peptide-emerging-applications-in-disorders-of-skeletal-growth
#10
REVIEW
Eric Espiner, Tim Prickett, Robert Olney
Although studies in experimental animals show that blood levels of C-type natriuretic peptide (CNP) and its bioinactive aminoterminal propeptide (NTproCNP) are potential biomarkers of long bone growth, a lack of suitable assays and appropriate reference ranges has limited the application of CNP measurements in clinical practice. Plasma concentrations of the processed product of proCNP, NTproCNP - and to a lesser extent CNP itself - correlate with concurrent height velocity throughout all phases of normal skeletal growth, as well as during interventions known to affect skeletal growth in children...
March 7, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30840955/body-composition-and-circulating-polyunsaturated-fatty-acids-at-age-6-years-a-longitudinal-pilot-study
#11
Nuria Sanz, Rita Malpique, Cristina Sierra, Abel López-Bermejo, Judit Bassols, Lourdes Ibáñez
Maternal polyunsaturated fatty acid (PUFA) status during pregnancy may influence birth outcomes and offspring adiposity during childhood. Cord blood PUFA levels associate positively with maternal PUFA and negatively with the newborn's abdominal adiposity. However, longitudinal, prospective studies consistently evaluating maternal and cord blood and PUFA levels in childhood and their association with the child's body composition are so far lacking. In a population of 16 apparently healthy children born appropriate for gestational age and followed longitudinally since birth, we assessed circulating PUFA (by gas chromatography) in maternal, cord, and peripheral blood at age 6 years and studied their correlation with body composition (by absorptiometry) and endocrine-metabolic variables at age 6 years...
March 6, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30836360/growth-hormone-improves-short-term-growth-in-patients-with-temple-syndrome
#12
Diana S Brightman, Oluwakemi Lokulo-Sodipe, Beverly A Searle, Deborah J G Mackay, Justin H Davies, I Karen Temple, Andrew Dauber
BACKGROUND/AIMS: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restriction, short stature, hypotonia, small hands and feet and precocious puberty. We sought to determine whether treatment with growth hormone improves growth outcomes in patients with Temple syndrome...
March 5, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30836359/needle-free-and-needle-based-growth-hormone-therapy-in-children-a-pooled-analysis-of-three-long-term-observational-studies
#13
Tilman R Rohrer, Sabine Ceplis-Kastner, Norbert Jorch, Hermann L Müller, Roland Pfäffle, Thomas Reinehr, Annette Richter-Unruh, Claudia Weißenbacher, Paul-Martin Holterhus
BACKGROUND: Treatment with growth hormone (GH) is standard clinical practice in children with GH deficiency (GHD) or Turner syndrome (TS). Hitherto, no long-term data on auxological outcome and safety of Zomacton® have been published. Data comparing needle-free administration (NF) and needle injection (NI) of GH are very sparse. AIMS: To analyse longitudinal auxological outcome and safety data of GH treatment-naïve patients diagnosed with GHD or TS and to compare NF and NI in a real-life setting...
March 5, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30820008/quality-of-life-in-adolescent-boys-with-idiopathic-short-stature-positive-impact-of-growth-hormone-and-aromatase-inhibitors
#14
Monika Bullinger, Janika Bloemeke, Veronica Mericq, Rachel Sommer, Xiemena Gaete, Judith L Ross, Y Miles Yu, Joseph Permuy, Priscila Gagliardi, Y Ligeia Damaso, Nelly Mauras
BACKGROUND: The combination of growth hormone (GH) and aromatase inhibitors (AI) improves linear growth in severely short adolescent boys; however, the effects of this intervention on quality of life (QoL) are unknown. This study assesses whether GH, AI, or their combination impacts the QoL of adolescent males with idiopathic short stature (ISS) from both the adolescent and the parent perspective. METHOD: A randomized open-label comparator trial was conducted in 76 pubertal males with ISS who received AI, GH, or AI/GH for 24 months...
February 28, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30783028/psychosocial-screening-in-disorders-differences-of-sex-development-psychometric-evaluation-of-the-psychosocial-assessment-tool
#15
Michelle M Ernst, Melissa Gardner, Constance A Mara, Emmanuèle C Délot, Patricia Y Fechner, Michelle Fox, Meilan M Rutter, Phyllis W Speiser, Eric Vilain, Erica M Weidler, David E Sandberg
BACKGROUND/AIMS: Utilization of a psychosocial screener to identify families affected by a disorder/difference of sex development (DSD) and at risk for adjustment challenges may facilitate efficient use of team resources to optimize care. The Psychosocial Assessment Tool (PAT) has been used in other pediatric conditions. The current study explored the reliability and validity of the PAT (modified for use within the DSD population; PAT-DSD). METHODS: Participants were 197 families enrolled in the DSD-Translational Research Network (DSD-TRN) who completed a PAT-DSD during a DSD clinic visit...
February 15, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30739117/prediction-models-for-early-childhood-obesity-applicability-and-existing-issues
#16
REVIEW
Éadaoin M Butler, José G B Derraik, Rachael W Taylor, Wayne S Cutfield
Statistical models have been developed for the prediction or diagnosis of a wide range of outcomes. However, to our knowledge, only 7 published studies have reported models to specifically predict overweight and/or obesity in early childhood. These models were developed using known risk factors and vary greatly in terms of their discrimination and predictive capacities. There are currently no established guidelines on what constitutes an acceptable level of risk (i.e., risk threshold) for childhood obesity prediction models, but these should be set following consideration of the consequences of false-positive and false-negative predictions, as well as any relevant clinical guidelines...
February 8, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30739106/a-familial-case-of-a-whole-germline-cdc73-deletion-discordant-for-primary-hyperparathyroidism
#17
Naomi Hatabu, Naho Katori, Takeshi Sato, Naonori Maeda, Eri Suzuki, Osamu Komiyama, Hidemitsu Tsutsui, Toshitaka Nagao, Hana Nakauchi-Takahashi, Tatsuo Matsunaga, Tomohiro Ishii, Tomonobu Hasegawa, Kazuki Yamazawa
INTRODUCTION: Primary hyperparathyroidism (PHPT) occurs as part of familial syndromes, including CDC73-related disorders caused by germline pathogenic variants of the CDC73 gene, particularly in early adulthood. Herein, we report a familial case of a whole germline CDC73 deletion discordant for PHPT. CASE DESCRIPTION: A 15-year-old boy was admitted to our hospital because of persistent nausea and vomiting. Laboratory tests showed hypercalcemia (13.6 mg/dL), hypophosphatemia (2...
February 8, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30739101/growth-disturbances-in-childhood-cancer-survivors
#18
Zoltan Antal, Sadana Balachandar
Survival from childhood cancer has improved dramatically over the last few decades, resulting in an increased need to address the long-term follow-up and care of childhood cancer survivors. Appropriate linear growth is an important measure of health, with alterations of growth in children and short adult height in those who have completed growth serving as potential indicators of the sequelae of the underlying diagnosis or the cancer treatments. It is therefore critical that clinicians, particularly endocrinologists, be familiar with the patterns of altered growth which may be seen following diagnosis and treatment for childhood cancer...
February 8, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30703774/hypogonadism-in-children-with-a-previous-history-of-cancer-endocrine-management-and-follow-up
#19
Hanneke M van Santen, Marry M van den Heuvel-Eibrink, Marianne D van de Wetering, W Hamish Wallace
Hypogonadism after treatment for childhood cancer is a recognized complication and its cause may be subdivided into primary gonadal failure and central hypogonadism. Here, we provide an overview of the risk factors for the development of hypogonadism, assessment and potential interventions and give a summary of the current recommendations for management and follow-up of hypogonadism in childhood cancer survivors.
January 31, 2019: Hormone Research in Pædiatrics
https://read.qxmd.com/read/30695784/espe-and-pes-international-survey-of-centers-and-clinicians-delivering-specialist-care-for-children-and-adolescents-with-gender-dysphoria
#20
Nicos Skordis, Gary Butler, Martine C de Vries, Katharina Main, Sabine E Hannema
BACKGROUND/AIMS: Increasing numbers of children and adolescents seek medical care because they experience incongruence between their physical sex and their gender identity. METHODS: The ESPE working group on gender dysphoria (GD) undertook a survey to investigate the structure and the type of medical care in centers that offer specialist care for transgender adolescents. RESULTS: The personnel of each center varied from country to country, and a nationally organized network or plan for managing GD did not exist in all centers...
January 29, 2019: Hormone Research in Pædiatrics
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