Results 231 to 240 of about 72,472 (321)

Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk. [PDF]

Diseases
Fraccascia B, Sodero G, Pane LC, Malavolta E, Gola C, Pane L, Paradiso VF, Nanni L, Rigante D, Cipolla C.   +9 more
europepmc   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Rathke′s cyst with ectopic neurohypophysis presenting as severe short stature with delayed puberty

, 2012
Deep Dutta, Ajitesh Roy, Sujoy Ghosh, Pradip Mukhopadhyay, Ranen Dasgupta, Satinath Mukhopadhyay, Subhankar Chowdhury   +6 more
openalex   +1 more source

Fertility preservation in women with sarcoma: A real‐world experience

International Journal of Cancer, Volume 158, Issue 5, Page 1178-1183, 1 March 2026.
What's New? Sarcomas frequently affect adolescent girls and young women, but limited data exist on ovarian function following sarcoma treatment. This observational cohort study evaluated the feasibility, timing, and clinical relevance of fertility preservation in young women treated for high‐grade sarcomas or desmoid tumors.
Guillaume Beinse, Pascaline Boudou‐Rouquette, Sixtine de Percin, Anne Fortin, Johanna Noel, Sarah Kreps, Jérémy Sroussi, Virginie Barraud‐Lange, Jérôme Alexandre, François Goldwasser, Camille Tlemsani, Catherine Poirot   +11 more
wiley   +1 more source

SAT-012 Congenital Hypogonadotropic Hypogonadism Caused bya FrameshiftMutation inFGFR1masking as constitutional delay of puberty [PDF]

Essam Hassan Mohamed, Imane Boughazi, Aikaterini Theodoraki, Zin Htut   +3 more
openalex   +1 more source

Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 429-440, March 2026.
The analysis of height, weight, and BMI z‐score trajectories in boys with DMD from the FOR‐DMD study showed that higher baseline height was associated with slower subsequent growth, and older age with greater weight gain after glucocorticoid initiation.
Marianela Schiava, Utkarsh J. Dang, Claire Wood, Sze Choong Wong, Leanne M. Ward, Robert Muni Lofra, Anna Mayhew, William B. Martens, Stephanie Gregory, Robert C. Griggs, Michela Guglieri, on behalf of the FOR‐DMD Muscle Study Group, Adnan Manzur, Amos Rachel, Andrea Gangfuss, Anne Marie Childs, Ashutosh Kumar, Barbara E. Herr, Basil T. Darras, Chris Speed, Craig Campbell, Craig M. McDonald, Ekkehard Wilichowski, Elaine McColl, Elena Pegoraro, Emma Ciafaloni, Erik K. Henricson, Federica Ricci, Gian Luca Vita, Giovanni Baranello, Giuseppe Vita, Helen Roper, Hugh J. McMillan, Iain A. Horrocks, Imelda Hughes, James F. Howard, Janbernd Kirschner, Jay J. Han, Jean K. Mah, Jeffrey M. Statland, Jennifer Wilkinson, Kate Bushby, Kathleen O’Reardon, Kevin M. Flanigan, Kimberly A. Hart, Leslie Morrison, Lorenzo Maggi, Luca Bello, Maja von der Hagen, Mary W. Brown, Mathula Thangarajh, Matthew Wicklund, Michael P. McDermott, Michelle Eagle, Monika Krzesniak‐Swinarska, Nancy L. Kuntz, Nanette Joyce, Perry B. Shieh, Peter B. Kang, Rabi Tawil, Richard J. Barohn, Richard S. Finkel, Russell J. Butterfield, Stefan Spinty, Taeun Chang, Tiziana E. Mongini, Tracey Willis, Ulrike Schara‐Schmidt, Volker Straub, W. Bryan Burnette, Wendy M. King, Zoya Alhaswani   +71 more
wiley   +1 more source

Case Report of Untreated Pediatric Femoral Neck Fracture With Osteopenia [PDF]

, 2020
Yan, Sha
core  

CYTOKINE PROFILE IN TEENAGE BOYS WITH DELAYED PUBERTYS

, 2010
С. И. Турчина, O. I. Plekhova, N. V. Shlyakhova   +2 more
openalex   +2 more sources

A Leptin Receptor Mutation Which Impairs Fertility in Ewes Causes Delayed Puberty in Male and Female Mice.

Endocrinology
Lord RA, Inglis MA, Juengel JL, Anderson GM.   +3 more
europepmc   +1 more source

Pubertal Assessment and Growth in Patients With Hemoglobinopathies: A Longitudinal Multicenter Study on the Association With Ferritin Levels

European Journal of Haematology, Volume 116, Issue 3, Page 276-289, March 2026.
ABSTRACT Objectives Although Advancements in the Treatment of Hemoglobinopathies have Considerably Increased Life Expectancy, Hormonal and Pubertal Development Have Been Continuously Affected by Complications From Transfusion‐Related Iron Overload and Cytotoxic Therapies.
J. Dülberg, C. Sanchez, M.‐A. Burckhardt, L. Alacán Friedrich, V. Salow, A. Radauer‐Plank, A. Borgmann‐Staudt, H. Cario, M. Diepold, B. Drexler, L. Infanti, S. Kroiss, N. Dietliker, R. Merki, L. Njue, L. Oevermann, A. Rovó, K. Scheinemann, M. Schneider, M. Balcerek, T. Diesch‐Furlanetto   +20 more
wiley   +1 more source