journal
https://read.qxmd.com/read/37778327/compromised-adult-height-in-females-with-non-classical-congenital-adrenal-hyperplasia-diagnosed-in-childhood
#41
LETTER
Bas P H Adriaansen, Antonius E van Herwaarden, Fred C G J Sweep, Hedi L Claahsen-van der Grintena
No abstract text is available yet for this article.
September 29, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37748459/unmet-needs-of-pediatricians-in-transgender-specific-care-results-of-a-short-term-training
#42
JOURNAL ARTICLE
Fabiana Santamaria, Cristiano Scandurra, Selene Mezzalira, Vincenzo Bochicchio, Mariacarolina Salerno, Raffaella Di Mase, Donatella Capalbo
INTRODUCTION: The aim of this study was to evaluate (i) the knowledge about different dimensions of sexual identity in a group of family pediatricians and (ii) the efficacy of a training program to improve knowledge and reduce genderism and heteronormativity. METHODS: A pre-post-follow-up study was conducted with 96 Italian pediatricians (48 men and 48 women) who participated in a 6-h training program and divided into 2 sections. The first section was theoretical and focused on the conceptual foundations of sexual identity, the depathologizing approach to gender diversity, and the role of pediatricians as the first contacts of children's or adolescents' family...
September 25, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37725936/a-novel-heterozygous-de-novo-splicing-variant-affecting-the-intracellular-domain-of-the-growth-hormone-receptor-causing-a-mild-short-stature
#43
Aristeidis Giannakopoulos, Anastasios D Papanastasiou, Ioannis K Zarkadis, Shayne F Andrew, Ron G Rosenfeld, Alexandra Efthymiadou, Dionisios Chrysis, Vivian Hwa
INTRODUCTION: Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include "atypical" GHIS subjects with milder phenotypes due to very rare heterozygous growth hormone receptor (GHR) mutations with dominant negative effects. CASE PRESENTATION: A 13-year-old pubertal boy presented with short stature (-1.7 SDS) and delayed bone age (11.5 years). His serum IGF-1 was low (16 ng/ml; reference range: 179-540)...
September 19, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37725926/abstracts-of-the-espe-61-annual-society-meeting
#44
JOURNAL ARTICLE
(no author information available yet)
No abstract text is available yet for this article.
September 19, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37722360/thyroid-ultrasound-screening-in-childhood-cancer-survivors-following-radiotherapy
#45
JOURNAL ARTICLE
Julia A Baran, Stephen Halada, Andrew J Bauer, Yimei Li, Amber Isaza, Tasleema Patel, Lindsay Sisko, Jill P Ginsberg, Ken Kazahaya, N Scott Adzick, Sogol Mostoufi-Moab
INTRODUCTION: Childhood cancer survivors (CCS) are at risk for radiotherapy (RT) late effects, including second malignancies. Optimal screening for differentiated thyroid cancer (DTC) in CCS post-RT remains controversial. We assessed the outcome of thyroid ultrasound (US) surveillance in CCS exposed to RT. METHODS: 306 CCS were surveilled with thyroid US between 2002-2021. Surveillance was dependent on age at the time of primary diagnosis, interval from receipt of RT, and individual provider...
September 18, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37703865/genetic-screening-and-functional-analysis-of-tpo-variants-in-chinese-patients-with-congenital-hypothyroidism
#46
JOURNAL ARTICLE
Hai-Yang Zhang, Feng-Yao Wu, Xue-Song Li, Cao-Xu Zhang, Ping-Hui Tu, Rui-Meng Yang, Xiao-Yu Liu, Ren-Jie Cui, Liu Yang, Chen-Yang Wu, Rui-Jia Zhang, Ya Fang, Feng Sun, Jun Liang, Feng Cheng, Huai-Dong Song, Shuang-Xia Zhao
INTRODUCTION: Congenital hypothyroidism (CH), the most common neonatal endocrine disorder world-wide, can be caused by variants in the thyroid peroxidase (TPO) gene. This study aimed to identify TPO variants in Chinese patients with CH, analyze their impact on TPO function, and establish relationships between TPO genotypes and clinical characteristics. METHODS: A total of 328 patients with CH were screened for TPO variants by performing whole exome sequencing. The function of the detected TPO variants was investigated via transfection assays in vitro...
September 13, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37703843/development-of-a-minimum-dataset-for-the-monitoring-of-recombinant-human-growth-hormone-rhgh-therapy-use-in-children-with-growth-hormone-deficiency-ghd-a-globe-reg-initiative
#47
JOURNAL ARTICLE
Suet Ching Chen, Jillian Bryce, Minglu Chen, Evangelia Charmandari, Jin-Ho Choi, Xinyu Dou, Chunxiu Gong, Rasha Hamza, Jamie Harvey, Andrew R Hoffman, Reiko Horikawa, Gudmundur Johannson, Alexander Augusto de Lima Jorge, Bradley S Miller, Sebastian Roehrich, Lars Sävendahl, Xanthippi Tseretopoulou, Diana Vitali, Michael Wajnrajch, S Faisal Ahmed
Introduction Although there are some recommendations in the literature on the assessments that should be performed in children on recombinant human growth hormone (rhGH) therapy, the level of consensus on these measurements is not clear. The objective of the current study was to identify the minimum dataset (MDS) that could be measured in a routine clinical setting across the world, aiming to minimise burden on clinicians and improve quality of data collection. Methods This study was undertaken by the GH Scientific Study Group (SSG) in GloBE-Reg, a new project that has developed a common registry platform that can support long-term safety and effectiveness studies of drugs...
September 13, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37660694/exogenous-insulin-antibody-syndrome-in-a-pediatric-patient-successful-treatment-with-mycophenolate-mofetil
#48
Leslie Saba, Erica M Fatica, Amir B Orandi, Siobhan T Pittock, Ana L Creo
INTRODUCTION: Exogenous insulin antibody syndrome (EIAS) rarely occurs in type 1 diabetes and should be considered in those with blood glucose levels outside the target range requiring greater than 2 units/kg/day of insulin without obesity. We describe the novel treatment of this condition using mycophenolate mofetil monotherapy in a pediatric patient in the outpatient setting. CASE PRESENTATION: A 17-year-old Caucasian male with type 1 diabetes experienced an abrupt increase in insulin requirements from 1...
September 1, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37611564/sall4-phenotype-in-four-generations-of-one-family-an-interplay-of-the-upper-limb-kidneys-and-the-pituitary
#49
Aneta Kodytková, Shenali Anne Amaratunga, Daniela Zemková, Klara Maratová, Petra Dušátková, Lukáš Plachý, Štěpánka Průhová, Stanislava Koloušková, Jan Lebl
INTRODUCTION: The SALL4 gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It is required for the development of neural tissue, kidney, heart, and limbs. Pathogenic SALL4 variants cause Duane-radial ray syndrome (Okihiro syndrome), acro-renal-ocular syndrome and Holt-Oram syndrome. We report a family with vertical transmission of a SALL4 pathogenic variant leading to radial hypoplasia and kidney dystopia in several generations with additional growth hormone deficiency (GHD) in the proband...
August 23, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37611560/blood-pressure-in-children-with-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#50
REVIEW
Chamila Balagamage, Neil R Lawrence, Ruth Krone, Irina A Bacila, Nils P Krone
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) leads to impaired glucocorticoid and mineralocorticoid synthesis with excess production of androgens. Replication of the normal circadian cortisol secretion is challenging and supraphysiological doses of glucocorticoids are often required. Most patients experience transient episodes of hyper- and hypocortisolaemia during the day leading to adverse metabolic outcomes such as insulin resistance, visceral adiposity and cardiovascular morbidity, including hypertension...
August 23, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37611546/is-growth-hormone-therapy-for-previously-small-for-gestational-age-safe-and-effective-commentary-on-results-from-the-2005-2018-french-national-registry
#51
JOURNAL ARTICLE
Malcolm David Cairns Donaldson
No abstract text is available yet for this article.
August 23, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37607514/arginine-stimulated-copeptin-based-diagnosis-of-central-diabetes-insipidus-in-children-and-adolescents
#52
JOURNAL ARTICLE
Sebastian Gippert, Maik Brune, Ruth L Dirksen, Daniela Choukair, Markus Bettendorf
INTRODUCTION: Diagnosis of central diabetes insipidus (CDI) remains challenging. Water deprivation testing and hypertonic saline infusion, as established diagnostic tests, are mentally and physically demanding for patients. Arginine-stimulated copeptin has been shown as a putative parameter for the differential diagnosis of CDI in adults. METHODS: In this single-centre retrospective study, we identified paediatric patients with suspected pituitary disorders who underwent standard arginine-testing...
August 22, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37586336/recombinant-human-insulin-like-growth-factor-1-treatment-of-severe-growth-failure-in-three-siblings-with-stat5b-deficiency
#53
Gajanthan Muthuvel, Sareea Salem Al Remeithi, Corinne Foley, Andrew Dauber, Vivian Hwa, Philippe Backeljauw
INTRODUCTION: Patients with homozygous recessive mutations in STAT5B have severe progressive postnatal growth failure and insulin-like growth factor-I (IGF-I) deficiency associated with immunodeficiency and increased risk of autoimmune and pulmonary conditions. This report describes the efficacy and safety of recombinant human IGF-1 (rhIGF-1) in treating severe growth failure due to STAT5B deficiency. CASE PRESENTATION: Three siblings (P1, 4.4 year-old female; P2, 2...
August 16, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37552972/prevalence-of-polycystic-ovarian-syndrome-in-girls-with-a-history-of-idiopathic-central-precocious-puberty
#54
JOURNAL ARTICLE
Andrea Josefina Arcari, Analía Verónica Freire, María Gabriela Ballerini, María Eugenia Escobar, Yenifer María Díaz Marsiglia, Ignacio Bergadá, María Gabriela Ropelato, Mirta Graciela Gryngarten
INTRODUCTION: The prevalence of polycystic ovarian syndrome (PCOS) in adolescent girls is between 1 and 4.3%. It remains controversial whether women with a history of idiopathic central precocious puberty (ICPP) are at increased risk for PCOS. Our objective was to assess the prevalence of PCOS in adolescents with a history of ICPP compared with healthy adolescents and the prevalence of PCOS among ICPP girls who have received or not gonadotropin-releasing hormone analogue (GnRHa) treatment...
August 8, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37552959/cross-cultural-disparities-in-psychosocial-research-with-individuals-with-classical-congenital-adrenal-hyperplasia-a-scoping-review
#55
Katherine A Traino, Nathan L Basile, Hui-Fen Chang, Rachel S Fisher, Taylor M Dattilo, Larry L Mullins, Annastasia Ediati, Amy B Wisniewski
INTRODUCTION: There are increased calls to address psychosocial needs among individuals with classical congenital adrenal hyperplasia (CAH). However, cross-cultural disparities exist in treatment practices and psychosocial outcomes that impact the generalizability of evidence-based recommendations. To date, this disparity has not been quantified. The present scoping review uses a dual approach to contrast rates of CAH diagnosis with CAH psychosocial research rates across countries. METHODS: Six electronic database searches were conducted for: (1) CAH incidence/birth/prevalence rates; and (2) psychosocial research with affected individuals and their families...
August 8, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37531939/in-memoriam-nathalie-josso-md-phd
#56
JOURNAL ARTICLE
Rodolfo A Rey, Jean-Yves Picard, Raphael Rappaport
No abstract text is available yet for this article.
August 2, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37494920/abstracts-of-the-2023-pediatric-endocrine-society-pes-annual-meeting-to-hormone-research-in-paediatrics
#57
JOURNAL ARTICLE
(no author information available yet)
No abstract text is available yet for this article.
July 26, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37463572/a-novel-rnpc3-gene-variant-expands-the-phenotype-in-patients-with-congenital-hypopituitarism-and-neuropathy
#58
JOURNAL ARTICLE
Zehra Yavas Abali, Ezgi Gokpinar Ili, Firdevs Bas, Melis Ulak Ozkan, Çagrı Gulec, Guven Toksoy, Ayşe Pinar Ozturk, Esin Karakilic Ozturan, Ayça Aslanger, Mine Caliskan, Gozde Yesil, Sukran Poyrazoglu, Feyza Darendeliler, Zehra Oya Uyguner
INTRODUCTION: Pathogenic biallelic RNPC3 variants cause congenital hypopituitarism (CH) with congenital cataracts, neuropathy, developmental delay/intellectual disability, primary ovarian insufficiency, and pituitary hypoplasia. Here, we aimed to evaluate the clinical and molecular characteristics of two patients with CH and neuropathy. MATERIAL AND METHODS: Proband was evaluated by clinical, laboratory, and radiological exams followed by exome sequencing (ES). Clinical investigation of an affected sibling and variant segregation in the family was performed by Sanger sequencing...
July 18, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37454652/novel-use-of-dasiglucagon-a-soluble-glucagon-analog-for-the-treatment-of-hyperinsulinemic-hypoglycemia-secondary-to-suspected-insulinoma-a-case-report
#59
Dana Reynolds, Lauren M Mitteer, Winifred Sigal, Linda Boyajian, Heather McKnight, Tricia Bhatti, Lisa States, Susan Becker, N Scott Adzick, Katherine Lord, Diva D De Leon
INTRODUCTION: Hyperinsulinemic hypoglycemia is the most common cause of persistent hypoglycemia in children and adults. In adolescents and adults, hyperinsulinemic hypoglycemia is most frequently caused by an insulin-producing tumor. CASE PRESENTATION: A 17-year-old, previously healthy male presented with recurrent and severe episodes of hypoglycemia. Diagnostic evaluation was consistent with hyperinsulinemic hypoglycemia, and an insulinoma was suspected. Multiple imaging studies and surgical exploration failed to identify a lesion...
July 14, 2023: Hormone Research in Pædiatrics
https://read.qxmd.com/read/37454648/international-guidelines-for-the-diagnosis-and-management-of-hyperinsulinism
#60
Diva D De Leon, Jean Baptiste Arnoux, Indraneel Banerjee, Ignacio Bergadá, Tricia Bhatti, Louise S Conwell, Jun Fen Fu, Sarah E Flanagan, David Gillis, Thomas Meissner, Klaus Mohnike, Tai L S Pasquini, Pratik Shah, Charles A Stanley, Adrian Vella, Tohru Yorifuji, Paul S Thornton
Hyperinsulinism (HI) due to dysregulation of pancreatic beta-cell insulin secretion is the most common and most severe cause of persistent hypoglycemia in infants and children. In the 65 years since HI in children was first described, there has been a dramatic advancement in the diagnostic tools available, including new genetic techniques and novel radiologic imaging for focal HI, however; there have been almost no new therapeutic modalities since the development of diazoxide. Recent advances in neonatal research and genetics have improved our understanding of the pathophysiology of both transient and persistent forms of neonatal hyperinsulinism...
July 14, 2023: Hormone Research in Pædiatrics
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