Growth hormone—past, present and future
MB Ranke, JM Wit - Nature Reviews Endocrinology, 2018 - nature.com
Growth hormone (GH) research and its clinical application for the treatment of growth
disorders span more than a century. During the first half of the 20th century, clinical …
disorders span more than a century. During the first half of the 20th century, clinical …
Genetics of combined pituitary hormone deficiency: roadmap into the genome era
Q Fang, AS George, ML Brinkmeier… - Endocrine …, 2016 - academic.oup.com
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …
DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations
J Vergier, F Castinetti, A Saveanu… - European Journal of …, 2019 - academic.oup.com
Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This
syndrome is an antenatal developmental defect belonging to the holoprosencephaly …
syndrome is an antenatal developmental defect belonging to the holoprosencephaly …
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 …
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity
R Brauner, J Bignon-Topalovic, A Bashamboo… - PLoS …, 2020 - journals.plos.org
Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic
posterior pituitary, interrupted pituitary stalk and anterior pituitary hypoplasia, as well as in …
posterior pituitary, interrupted pituitary stalk and anterior pituitary hypoplasia, as well as in …
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 …
Pituitary stalk interruption syndrome from infancy to adulthood: clinical, hormonal, and radiological assessment according to the initial presentation
C Bar, C Zadro, G Diene, I Oliver, C Pienkowski… - PLoS …, 2015 - journals.plos.org
Background Patients with pituitary stalk interruption syndrome (PSIS) are initially referred for
hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is …
hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is …
Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome
E Karaca, R Buyukkaya, D Pehlivan… - The Journal of …, 2015 - academic.oup.com
Context: Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the
pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary …
pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary …
Pituitary stalk interruption syndrome: from clinical findings to pathogenesis
CZ Wang, LL Guo, BY Han, X Su… - Journal of …, 2017 - Wiley Online Library
Pituitary stalk interruption syndrome (PSIS) is a rare congenital defect manifesting with
varying degrees of pituitary hormone deficiency. The signs and symptoms of PSIS during the …
varying degrees of pituitary hormone deficiency. The signs and symptoms of PSIS during the …
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 …
genetic causes of non‐acquired hypopituitarism. Aims To describe main phenotype patterns …