Results 201 to 210 of about 69,264 (288)

Diagnosis of Growth Hormone Deficiency in Children: Comparative Performance of Arginine Versus Glucagon as the First Stimulation Test

Clinical Endocrinology, EarlyView.
ABSTRACT Objective Growth hormone deficiency (GHD) diagnosis typically requires the performance of two sequential stimulation tests. Glucagon stimulation test (GST) and arginine stimulation test (AST) are widely used. This study aimed to determine the most suitable order of tests.
David Shaki, Daria Shvarts, Eli Hershkovitz, Lior Carmon, Hazan Guy, Bachar Yoav, Alon Haim   +6 more
wiley   +1 more source

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

Clinical Endocrinology, EarlyView.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle, Christine Lefevre, Simon Boussion, Cindy Colson, Iva Gueorguieva, Francois Marcelli, Anne Laure Barbotin, Pascal Pigny, Hamza Benderradji, Clara Leroy   +9 more
wiley   +1 more source

Differences in growth in prepubertal children with definite growth hormone deficiency, short stature unresponsive to stimulation tests, and idiopathic short stature treated with recombinant human growth hormone: a retrospective study. [PDF]

Front Endocrinol (Lausanne)
Tamaro G, Lanzetta MA, Carlsson MO, La Torre D, Tornese G.   +4 more
europepmc   +1 more source

A Simplified Method for Assessing Bone Age in Adolescents

Clinical Endocrinology, EarlyView.
ABSTRACT Objective To develop and evaluate a simplified method for skeletal age assessment in adolescents as a rapid alternative to the Greulich–Pyle (GP) method. Design Retrospective methodological study comparing the simplified method with the GP atlas, with duplicate readings by experienced and inexperienced raters.
Yehuda Limony, Alon Haim, Michael Friger, Emad Alamour, Eyal Kristal, Eli Hershkovitz   +5 more
wiley   +1 more source

A novel MMP13 frameshift variant causes short stature via enhanced MMP13-HSPA5 interaction and activated endoplasmic reticulum stress. [PDF]

Clin Transl Med
Lu H, Feng X, Dai S, Zhu Y, Yuan K, Chen Y, Zhu J, Fang Y, Yan Q, Wang C.   +9 more
europepmc   +1 more source

Growth Hormone Treatment Response and Machine Learning‐Based Prediction in Idiopathic GHD and ISS: Analysis of the Korean LG Growth Study

Clinical Endocrinology, EarlyView.
ABSTRACT Objective Individual responses to recombinant human growth hormone (rhGH) therapy vary widely among children with idiopathic growth hormone deficiency (iGHD) and idiopathic short stature (ISS), making accurate prediction of treatment outcomes clinically important.
Jisun Park, Eun Young Joo, Su Jin Kim, Myung Ji Yoo, Ji Eun Lee   +4 more
wiley   +1 more source

Nutritional Status of Children with Short Stature Is Oppositely Associated with Growth Hormone Peak in Stimulation Tests and Insulin-like Growth Factor-1 Concentration. [PDF]

J Clin Med
Smyczyńska J, Smyczyńska U, Hilczer M, Stawerska R.   +3 more
europepmc   +1 more source

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, EarlyView.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

Optimising diagnosis in children with short stature: an integrated clinical and NGS approach. [PDF]

Endocr Connect
Guazzarotti L, Mozzato C, Zoletto S, Boaretto F, Rigon C, Cassina M.   +5 more
europepmc   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, EarlyView.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source