Hypothalamic syndrome

HL Müller, M Tauber, EA Lawson, J Özyurt… - Nature reviews Disease …, 2022 - nature.com
Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-
related injury to the hypothalamus, most commonly associated with rare, non-cancerous …

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 …

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 …

Genetic forms of hypopituitarism and their manifestation in the neonatal period

KS Alatzoglou, MT Dattani - Early human development, 2009 - Elsevier
The anterior pituitary gland is a central regulator of growth, reproduction and homeostasis.
The development of the pituitary gland depends on the sequential temporal and spatial …

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia

T Raivio, M Avbelj, MJ McCabe… - The Journal of …, 2012 - academic.oup.com
Context: Kallmann syndrome (KS), combined pituitary hormone deficiency (CPHD), and
septo-optic dysplasia (SOD) all result from development defects of the anterior midline in the …

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 …

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 …

Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

MJ McCabe, C Gaston-Massuet… - The Journal of …, 2011 - academic.oup.com
Context: Fibroblast growth factor (FGF) 8 is important for GnRH neuronal development with
human mutations resulting in Kallmann syndrome. Murine data suggest a role for Fgf8 in …

Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations

P Garcia-Filion, M Borchert - Current treatment options in neurology, 2013 - Springer
Opinion statement Background: Optic nerve hypoplasia (ONH) has developed into a leading
cause of congenital blindness. The frequently associated features of hypopituitarism and …

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 …