Results 51 to 60 of about 2,220,873 (330)
Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report
Journal of the ASEAN Federation of Endocrine Societies, 2020 A 26-year-old lady presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome.
Yee Lin Lee, Luke Toh, Fabian Yap
doaj +1 more source
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
Clinical Endocrinology, 2021 Puberty is a process of transition from childhood to adult reproductive capacity, governed by the reactivation of the hypothalamic–pituitary–gonadal axis after a long period of dormancy in mid‐childhood.
S. Howard
semanticscholar +1 more source
Genes underlying delayed puberty
Molecular and Cellular Endocrinology, 2018 The genetic control of pubertal timing has been a field of active investigation for the last decade, but remains a fascinating and mysterious conundrum.
S. Howard
semanticscholar +1 more source
Current clinical management of constitutional delay of growth and puberty
Italian Journal of Pediatrics, 2022 Background Constitutional delay of growth and puberty (CDGP) is classified as the most frequent cause of delayed puberty (DP). Finding out the etiology of DP during first evaluation may be a challenge. In details, pediatricians often cannot differentiate
R. Gaudino +6 more
semanticscholar +1 more source
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
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
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
Journal of Clinical Endocrinology and Metabolism, 2017 Context: Self-limited delayed puberty (DP) is often associated with a delay in physical maturation, but although highly heritable the causal genetic factors remain elusive. Genome-wide association studies of the timing of puberty have identified multiple
S. Howard +13 more
semanticscholar +1 more source