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
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
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
Malcolm David Cairns Donaldson
No abstract text is available yet for this article.
August 23, 2023: Hormone Research in Pædiatrics
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
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
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
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
Rodolfo A Rey, Jean-Yves Picard, Raphael Rappaport
No abstract text is available yet for this article.
August 2, 2023: Hormone Research in Pædiatrics
(no author information available yet)
No abstract text is available yet for this article.
July 26, 2023: Hormone Research in Pædiatrics
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
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
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
Gabriel Ángel Martos-Moreno, Cheryl Rockman-Greenberg, Keiichi Ozono, Anna Petryk, Priya S Kishnani, Kathryn M Dahir, Lothar Seefried, Shona Fang, Wolfgang Högler, Agnès Linglart
INTRODUCTION: To better understand the clinical profiles of children with hypophosphatasia (HPP) prior to treatment with enzyme replacement therapy (ERT). METHODS: Pretreatment demographics and medical histories of ERT-treated children (aged < 18 years) enrolled in the Global HPP Registry (2015-2020) were analyzed overall, by age at first HPP manifestation (< 6 months versus 6 months to 18 years) and by geographic region (United States/Canada, Europe, and Japan)...
July 13, 2023: Hormone Research in Pædiatrics
Lucie Bazus, Kevin Perge, Pierre Chatelain, Marc Nicolino
INTRODUCTION: The management of childhood type 1 diabetes requires the active participation of parents. The aim of the present study was to describe the main characteristics of parents of children with type 1 diabetes, including objective burden regarding time spent on diabetes care, emotional distress (exhaustion, need for respite, quality of life), and symptoms of depression as well as anxiety. METHODS: In this observational study, parents of children with type 1 diabetes completed a questionnaire, anonymously...
July 13, 2023: Hormone Research in Pædiatrics
Jody B Grundman, Stephanie T Chung, Elizabeth Estrada, Robert H Podolsky, Abby Meyers, Brynn E Marks
INTRODUCTION: Cases and severity of presentation of youth-onset type 2 diabetes (Y-T2D) increased during the COVID-19 pandemic, yet the potential drivers of this rise remain unknown. During this time public health mandates paused in-person education and limited social interactions, resulting in radical lifestyle changes. We hypothesized that the incidence and severity of presentation of Y-T2D increased during virtual learning amidst the COVID-19 pandemic. MATERIALS AND METHODS: We conducted a single center retrospective chart review to identify all newly diagnosed cases of Y-T2D (n=387) at a pediatric tertiary care center in Washington, DC during three pre-determined learning periods as defined by learning modality in Washington, DC Public Schools: pre-pandemic in-person learning (3/11/2018-3/13/2020), pandemic virtual learning (3/14/2020-8/29/2021), and pandemic in-person learning (8/30/2021-3/10/2022) periods...
June 30, 2023: Hormone Research in Pædiatrics
Anne Claire Burghard, Virginia Rahming, Anna Sonnett Fisher, Jeffrey Zitsman, Sharon E Oberfield, Ilene Fennoy
BACKGROUND: Little is known about the relationship between metabolic factors and weight loss success in adolescents undergoing bariatric surgery. METHODS: The objective of this study was to assess if baseline metabolic characteristics associate with weight loss in adolescents undergoing laparoscopic sleeve gastrectomy. A retrospective study was conducted in a comprehensive adolescent bariatric surgery center of 151 subjects (34 male, 117 female). Anthropometric measurements and metabolic factors including blood pressure, fasting glucose, HbA1c, Metabolic Syndrome (MeS), liver function, triglycerides, and waist circumference were collected at one pre-surgical visit, and at 6 and/or 12 months post-laparoscopic sleeve gastrectomy...
June 23, 2023: Hormone Research in Pædiatrics
Alicia F Juriaans, Gerthe F Kerkhof, Mark Garrelfs, Demi Trueba-Timmermans, Anita C S Hokken-Koelega
INTRODUCTION: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by truncating mutations of the MAGEL2 gene, located in the Prader-Willi syndrome (PWS) region. PWS and SYS have phenotypic overlap. Patients with SYS are often treated with growth hormone (GH), but evidence for the effectiveness of the treatment in patients with SYS is limited. METHODS: This study describes 7 children with SYS. We studied their phenotype, genotype, and the effect of GH-treatment on height and BMI during four years and on body composition during one year...
June 21, 2023: Hormone Research in Pædiatrics
Ayşe Pınar Öztürk, Ayça Dilruba Aslanger, Firdevs Bas, Güven Toksoy, Volkan Karaman, Gulandam Bagirova, Sukran Poyrazoglu, Zehra Oya Uyguner, Feyza Darendeliler, Zehra Yavas Abali
BACKGROUND AND OBJECTIVE: Genetic forms of growth hormone deficiency (GHD) may occur as isolated (IGHD) or as a component of multiple pituitary hormone deficiency (MPHD). This study aimed to present patients' clinical and molecular characteristics with IGHD/MPHD due to the GH1 gene variants. MATERIAL AND METHODS: A gene panel accommodating 25 genes associated with MPHD and short stature was used to search for small sequence variants. Multiplex Ligation-dependent Probe Amplification (MLPA) was performed in patients with normal panel results to investigate gross deletion/duplications...
June 14, 2023: Hormone Research in Pædiatrics
Nicola Improda, Cristina Moracas, Giuseppina Mattace Raso, Valeria Valente, Giulia Crisci, Paola Lorello, Raffaella Di Mase, Mariacarolina Salerno, Donatella Capalbo
BACKGROUND: Growth hormone deficiency (GHD) may be associated with subtle cardiovascular abnormalities, reversible upon starting GH treatment. Data on vascular morphology and function in GHD children are scanty and inconclusive. OBJECTIVE: To evaluate the effects of GHD and GH treatment on endothelial function and intima-media thickness (IMT) in children and adolescents. METHODS: We enrolled 24 children with GHD (10.85±2.71 years) and 24 age-, sex- and BMI-matched controls...
June 8, 2023: Hormone Research in Pædiatrics
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