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 …

[HTML][HTML] Diagnosis and management of central congenital hypothyroidism

P Lauffer, N Zwaveling-Soonawala, JC Naafs… - Frontiers in …, 2021 - frontiersin.org
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at
birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of …

Hypopituitarism

M Fleseriu, M Christ-Crain, F Langlois, M Gadelha… - The Lancet, 2024 - thelancet.com
Partial or complete deficiency of anterior or posterior pituitary hormone production leads to
central hypoadrenalism, central hypothyroidism, hypogonadotropic hypogonadism, growth …

[HTML][HTML] Congenital hypopituitarism during the neonatal period: epidemiology, pathogenesis, therapeutic options, and outcome

L Bosch i Ara, H Katugampola, MT Dattani - Frontiers in pediatrics, 2021 - frontiersin.org
Introduction: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more
pituitary hormones. The pituitary gland is a central regulator of growth, metabolism, and …

Insights into non-classic and emerging causes of hypopituitarism

F Prodam, M Caputo, C Mele, P Marzullo… - Nature Reviews …, 2021 - nature.com
Hypopituitarism is defined as one or more partial or complete pituitary hormone deficiencies,
which are related to the anterior and/or posterior gland and can have an onset in childhood …

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 …

[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 …

[HTML][HTML] Knockout mice with pituitary malformations help identify human cases of hypopituitarism

J Martinez-Mayer, ML Brinkmeier, SP O'Connell… - Genome Medicine, 2024 - Springer
Background Congenital hypopituitarism (CH) and its associated syndromes, septo-optic
dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant …

Approach to the patient with short stature: genetic testing

R Perchard, PG Murray… - The Journal of Clinical …, 2023 - academic.oup.com
The first step in the evaluation of the short child is to decide whether growth parameters in
the context of the history are abnormal or a variant of normal. If growth is considered …

[PDF][PDF] Epidemiology of male hypogonadism

A Thirumalai, BD Anawalt - Endocrinology and metabolism clinics of North …, 2022 - Elsevier
The best available evidence indicates that the most common endogenous pathologic cause
of hypogonadism is Klinefelter syndrome (affecting up to∼ 0.2% of the male population) …