Results 41 to 50 of about 71,302 (277)
A classification of genes involved in normal and delayed male puberty
Asian Journal of Andrology, 2023 Puberty is a pivotal biological process that completes sexual maturation to achieve full reproductive capability. It is a major transformational period of life, whose timing is strongly affected by genetic makeup of the individual, along with various ...
Maleeha Akram +3 more
doaj +1 more source
Introduction to and Screening Visit Results of the Multicenter Pediatric Crohn's Disease Growth Study. [PDF]
, 2020 BackgroundStatural growth impairment is more common in males with Crohn's disease (CD). We assessed sex differences in height Z score differences and bone age (BA) Z scores and characterized age of menarche in a novel contemporary cohort of pediatric CD ...
Andrews, Howard +9 more
core
A rare presentation of the Klinefelter's syndrome [PDF]
, 2003 A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5,
A. Frank +23 more
core +2 more sources
Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment
Molecular Oncology, EarlyView.This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley +1 more source
Endocrine Connections, 2018 Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive.
Elena Galazzi +9 more
doaj +1 more source
Advanced Science, EarlyView.ABSTRACT Anti‐NMDAR encephalitis (NMDARE) is an autoantibody‐mediated disorder characterized by seizures, movement disorders, neurocognitive deficits, and psychosis, but the complete phenotypic heterogeneity, and outcomes are incompletely understood in children.
Alexander J. Sandweiss +9 more
wiley +1 more source
Iatrogenic chimerism in a patient with Fanconi anemia and delayed puberty
Гинекология, 2020 The article presents a clinical case of delayed puberty in a 13-year-old girl with Fanconi anemia who was sent to the Department of gynecology of children and adolescents for removal of the sexual glands due to the detection of a Y-chromosome in the ...
Zaira Kh. Kumykova +3 more
doaj +1 more source
Early onset of puberty in an obese boy with Klinefelter syndrome [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2016 Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty
Byoung-Wook Cho +5 more
doaj +1 more source
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source