Advances in differential diagnosis and management of growth hormone deficiency in children

C Hage, HW Gan, A Ibba, G Patti, M Dattani… - Nature Reviews …, 2021 - nature.com
Growth hormone (GH) deficiency (GHD) in children is defined as impaired production of GH
by the pituitary gland that results in growth failure. This disease might be congenital or …

The congenital and acquired mechanisms implicated in the etiology of central precocious puberty

VN Brito, APM Canton, CE Seraphim… - Endocrine …, 2023 - academic.oup.com
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 …

Appetite-and weight-regulating neuroendocrine circuitry in hypothalamic obesity

HW Gan, M Cerbone, MT Dattani - Endocrine Reviews, 2024 - academic.oup.com
Since hypothalamic obesity (HyOb) was first described over 120 years ago by Joseph
Babinski and Alfred Fröhlich, advances in molecular genetic laboratory techniques have …

Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review

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 …

Management of children and young people with idiopathic pituitary stalk thickening, central diabetes insipidus, or both: a national clinical practice consensus guideline

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 …

[HTML][HTML] Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders

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 …

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort

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 …

Approach to the patient: management of pituitary hormone replacement through transition

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 …

The interaction of obesity and reproductive function in adolescents

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 …

[HTML][HTML] Normal and abnormal puberty

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 …