The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including congenital and acquired causes that can be associated with structural or functional brain …
Since hypothalamic obesity (HyOb) was first described over 120 years ago by Joseph Babinski and Alfred Fröhlich, advances in molecular genetic laboratory techniques have …
A Mann, A Aghababaie, J Kalitsi, D Martins… - Molecular Autism, 2023 - Springer
Background Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve …
M Cerbone, J Visser, C Bulwer, A Ederies… - The Lancet Child & …, 2021 - thelancet.com
Unexplained or idiopathic pituitary stalk thickening or central diabetes insipidus not only harbours rare occult malignancies in 40% of cases but can also reflect benign congenital …
LC Gregory, C Cionna, M Cerbone, MT Dattani - Genetics in Medicine, 2023 - Elsevier
Purpose Congenital hypopituitarism (CH) disorders are phenotypically variable. Variants in multiple genes are associated with these disorders, with variable penetrance and …
N Jullien, A Saveanu, J Vergier… - Clinical …, 2021 - Wiley Online Library
Context The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non‐acquired hypopituitarism. Aims To describe main phenotype patterns …
M Cerbone, H Katugampola… - The Journal of …, 2022 - academic.oup.com
Hypopituitarism in childhood is a rare, complex disorder that can present with highly variable phenotypes, which may continue into adult life. Pituitary deficits can evolve over time, with …
V Elliott, SW Waldrop, P Wiromrat… - Seminars in …, 2022 - thieme-connect.com
Obesity is increasing worldwide, including in pediatrics. Adequate nutrition is required for initiation of menses, and there is a clear secular trend toward earlier pubertal onset and …
G Beccuti, L Ghizzoni - Endotext [Internet], 2015 - ncbi.nlm.nih.gov
Puberty is a biological process that represents the development of secondary sexual characteristics and attainment of reproductive capacity, influenced by genetic, metabolic …