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 …
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 …
birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of …
Hypopituitarism
Partial or complete deficiency of anterior or posterior pituitary hormone production leads to
central hypoadrenalism, central hypothyroidism, hypogonadotropic hypogonadism, growth …
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 …
pituitary hormones. The pituitary gland is a central regulator of growth, metabolism, and …
Insights into non-classic and emerging causes of hypopituitarism
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 …
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 …
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 …
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 …
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 …
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) …
of hypogonadism is Klinefelter syndrome (affecting up to∼ 0.2% of the male population) …