Explanipedia

EndoCompass Project: Research Roadmap for Growth Disorders Open

M. Tauber, Sébastien G. Bouret, Assumpta Caixàs, Andrew Dauber, Éloïse Giabicani , et al. · 2025

Background: Endocrine science remains underrepresented in European Union research programs despite the fundamental role of hormone health in human well-being. Analysis of the CORDIS database reveals a persistent gap between the societal im…

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies Open

Sébastien Küry, Geeske M. van Woerden, Tzung‐Chien Hsieh, Marielle Oloudé, Victoria Most , et al. · 2025

Neurodevelopmental proteasomopathies are a group of disorders caused by variants in proteasome subunit genes, that disrupt protein homeostasis and brain development through poorly characterized mechanisms. Here, we report 26 distinct varia…

Living With Hypochondroplasia: A Qualitative Exploration of Children's and Caregivers' Experiences, Challenges, and Unmet Needs Open

Reni Pekala, Sebastiano Cavallaro, Michael Cho, Chandler Crews, Andrew Dauber , et al. · 2025

Background Hypochondroplasia (HCH) is a rare genetic skeletal dysplasia characterized by short stature, disproportionate limbs, and complications such as learning differences. Currently, no treatments are approved to address HCH‐related sh…

SAT-220 Real-world Evidence Of Treatment Patterns And Costs Of Turner Syndrome And Noonan Syndrome In The United States Open

Andrew Dauber, M. Jennifer Abuzzahab, Jing Voon Chen, Nicky Kelepouris, Moshe Fridman , et al. · 2025

Disclosure: A.N. Dauber: Novo Nordisk, Pfizer, Inc., BioMarin, QED. M.J. Abuzzahab: Ascendis, Lumos, Medtronic, Novo Nordisk, Rhythm, Soleno, Endo Pharmaceuticals, Neurocrine, Pfizer, Inc. J. Chen: Novo Nordisk. N. Kelepouris: Novo Nordisk…

SAT-213 Trial of Vosoritide for Treatment of Short Stature in Turner syndrome: Preliminary Data Open

Roopa Kanakatti Shankar, Niusha Shafaei, Anqing Zhang, Kimberly Pitner, Niti Dham , et al. · 2025

Disclosure: R. Kanakatti Shankar: RKS has received research funding from BioMarin Pharmaceutical Inc., is a consultant for BioMarin, with fees paid to her institution.. N. Shafaei: None. A. Zhang: None. K. Pitner: None. N. Dham: None. A.N.…

MON-458 Crinecerfont Allows for More Physiologic Glucocorticoid Dosing Regimens in Patients With Classic Congenital Adrenal Hyperplasia: Results from the Phase 3 CAHtalyst™ Adult and CAHtalystTM Pediatric Studies Open

Natalie Nokoff, Kanthi Bangalore Krishna, Leen Antonio, Robert Farber, Jean L. Chan , et al. · 2025

Disclosure: N. Nokoff: Consultant for Neurocrine Biosciences, Inc.; expert panel member for World Athletics. K.B. Krishna: None. L. Antonio: Sandoz, Merck, Advisory board member for Simple Pharma. R.H. Farber: Full-time employee of Neurocr…

Improvement of Free T4 in Newly Diagnosed Graves Disease Patients Through a Multifaceted Quality Improvement Approach Open

Einas H Alkhatib, Tejal Patel, Julie Harlam, Padmaja Pavuluri, Maria Naveed , et al. · 2025

Introduction: Graves disease (GD) is the most common cause of pediatric hyperthyroidism, and if untreated, may result in multisystem complications and decreased quality of life. Through a multifaceted quality improvement (QI) approach, we …

EndoCompass project: research roadmap for growth disorders Open

Evelien Gevers, Anita C. S. Hokken‐Koelega, M. Tauber, Gerhard Binder, Elena G. Bochukova , et al. · 2025

Background Endocrine science remains underrepresented in European Union research programs despite the fundamental role of hormone health in human wellbeing. Analysis of the CORDIS database reveals a persistent gap between the societal impa…

P368: Design of the ACCEL study: A prospective clinical assessment study in children with hypochondroplasia Open

Ravi Savarirayan, Andrew Dauber, Liza Bakunina, Elena Muslimova, Julie Hoover-Fong , et al. · 2025

Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human GH: 3-year Response Open

Gajanthan Muthuvel, Andrew Dauber, Eirene Alexandrou, Leah Tyzinski, Vivian Hwa , et al. · 2024

Context Patients with aggrecan (ACAN) deficiency present with dominantly inherited short stature, as well as early-onset joint disease. Objective The objective of this study was to evaluate the efficacy and safety of recombinant human GH (…

Multicenter, Randomized Trial of a Bionic Pancreas in Type 1 Diabetes Open

R. Speakman J, Beck R.W, Damiano E.R, El-Khatib F.H, Ruedy K.J , et al. · 2024

BACKGROUND Currently available semiautomated insulin-delivery systems require individualized insulin regimens for the initialization of therapy and meal doses based on carbohydrate counting for routine operation. In contrast, the bionic pa…

Vosoritide treatment for children with hypochondroplasia: a phase 2 trial Open

Andrew Dauber, Anqing Zhang, Roopa Kanakatti Shankar, Kimberly Boucher, Tara McCarthy , et al. · 2024

This study was supported by an investigator-initiated grant from BioMarin Pharmaceutical.

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies Open

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Tzung‐Chien Hsieh, Cory Rosenfelt , et al. · 2024

Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis.…

O03: Vosoritide increases growth velocity in hypochondroplasia: Phase 2 trial results Open

Andrew Dauber, Anqing Zhang, Roopa Kanakatti Shankar, Kimberly Boucher, Tara McCarthy , et al. · 2024

Hypochondroplasia is a rare skeletal dysplasia resulting in disproportionate short stature and is due to activating variants in FGFR3. It has an estimated prevalence of between 1 to 9 per 100,000 people. Vosoritide is a C-type natriuretic …

OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity Open

Adriana Lofrano‐Porto, Sidney Alcântara Pereira, Andrew Dauber, Jordana C. Bloom, Audrey N. Fontes , et al. · 2023

Three sisters, born from consanguineous parents, manifested a unique Müllerian anomaly characterized by uterine hypoplasia with thin estrogen-unresponsive endometrium and primary amenorrhea, but with spontaneous tubal pregnancies. Through …

OR21-06 Growth Response Of Oral LUM-201 In OraGrowtH210 And OraGrowtH212 Trials In Idiopathic Pediatric Growth Hormone Deficiency (iPGHD): Combined Analysis Interim Analysis Data Open

Michael J. Tansey, Sasigarn A. Bowden, Andrew Dauber, Beata Wikiera, Beata Pyrżak , et al. · 2023

Disclosure: M.J. Tansey: Research Investigator; Self; Lumos Pharma, Inc. S.A. Bowden: Research Investigator; Self; Lumos Pharma, Inc. A.N. Dauber: Research Investigator; Self; Lumos Pharma, Inc. B. Wikiera: Research Investigator; Self; Lum…

Associations between collagen X biomarker and linear growth velocity in a pediatric chronic kidney disease cohort Open

Denver D. Brown, Jennifer Roem, Derek K. Ng, Ryan F. Coghlan, Brian Johnstone , et al. · 2023

International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood Open

Anita Hokken-Koelega, Manouk van der Steen, Margaret Cristina da Silva Boguszewski, Stefano Cianfarani, Jovanna Dahlgren , et al. · 2023

This International Consensus Guideline was developed by experts in the field of small for gestational age (SGA) of 10 pediatric endocrine societies worldwide. A consensus meeting was held and 1300 articles formed the basis for discussions.…

Supplementary Material for: Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency Open

Gajanthan Muthuvel, Andrew Dauber, E. Alexandrou, Leah Tyzinski, Melissa Andrew , et al. · 2023

Introduction: The metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) cleaves insulin-like growth factor (IGF) binding proteins 3 and 5 to release bioactive IGF-I from its ternary complex. Patients with mutations in PAPP-A2 …

OR18-5 A Prospective Clinical Trial of Vosoritide in Selected Genetic Causes of Short Stature Open

Kimberly Boucher, Niti Dham, Roopa Kanakatti Shankar, Tara McCarthy, Nadia Merchant , et al. · 2022

Objectives Vosoritide is a C-type natriuretic peptide analog which binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation via its inhibition of the ERK1/2-MAPK pathway. It was recently approv…

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant Open

Gönül Çatlı, Wen Gao, Corinne Foley, Berk Özyılmaz, Neslihan Edeer , et al. · 2022

Multicenter, Randomized Trial of a Bionic Pancreas in Type 1 Diabetes Open

Steven J. Russell, Roy W. Beck, Edward R. Damiano, Firas H. El-Khatib, Katrina J. Ruedy , et al. · 2022

In this 13-week, randomized trial involving adults and children with type 1 diabetes, use of a bionic pancreas was associated with a greater reduction than standard care in the glycated hemoglobin level. (Funded by the National Institute o…

Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function <i>LHCGR</i> Variant Open

Chelsi Flippo, Vipula Kolli, Melissa Andrew, Seth Berger, Tricia R. Bhatti , et al. · 2022

Context Autosomal dominant and rarely de novo gain-of-function variants in the LHCGR gene are associated with precocious male puberty, while somatic LHCGR variants have been found in isolated Leydig cell adenomas and Leydig cell hyperplasi…

Using Human Induced Pluripotent Stem Cell–Derived Organoids to Identify New Pathologies in Patients With PDX1 Mutations Open

Mansa Krishnamurthy, Daniel O. Kechele, Taylor Broda, Xinghao Zhang, Jacob R. Enriquez , et al. · 2022

Longitudinal Associations between Low Serum Bicarbonate and Linear Growth in Children with CKD Open

Denver D. Brown, Megan K. Carroll, Derek K. Ng, Rebecca V. Levy, Larry A. Greenbaum , et al. · 2022

Background Poor linear growth is a consequence of chronic kidney disease (CKD) that has been linked to adverse outcomes. Metabolic acidosis (MA) has been identified as a risk factor for growth failure. We investigated the longitudinal rela…

Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response Open

Gajanthan Muthuvel, Andrew Dauber, Eirene Alexandrou, Leah Tyzinski, Melissa Andrew , et al. · 2021

Context Patients with aggrecan (ACAN) deficiency present with dominantly inherited short stature, often with advanced skeletal maturation and premature growth cessation. There is a paucity of information on the effects of growth-promoting …

Clinical Utility of Anti-Mullerian Hormone in Pediatrics Open

Roopa Kanakatti Shankar, Tazim Dowlut‐McElroy, Andrew Dauber, Veronica Gómez-Lobo · 2021

Context Anti-Mullerian hormone (AMH) was originally described in the context of sexual differentiation in the male fetus but has gained prominence now as a marker of ovarian reserve and fertility in females. In this mini-review, we offer a…

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency Open

Péter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh-Lippold , et al. · 2021

Racial/Ethnic Disparities in the Investigation and Treatment of Pediatric Growth Hormone Deficiency Open

Colin P. Hawkes, Hareesh Gunturi, Andrew Dauber, Joel N. Hirschhorn, Adda Grimberg · 2021

Introduction : In the United States, non-Hispanic white (NHW) children are disproportionately over-represented relative to children of racial and ethnic minorities in pediatric growth hormone (GH) treatment registries. This study sought to…

Growth Hormone Stimulation Testing Patterns Contribute to Gender Disparities in Growth Hormone Treatment Open

Camilia Kamoun, Colin P. Hawkes, Hareesh Gunturi, Andrew Dauber, Joel N. Hirschhorn , et al. · 2021

Introduction: Growth hormone (GH) registries demonstrate that males outnumber females 2:1 for all indications combined and 3:1 for the idiopathic short stature indication. The aim of this study was to determine if gender disparities in GH …

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