Results 101 to 110 of about 265,208 (194)

Delayed diagnosis of congenital hypopituitarism associated with low socio-economic status and/or migration

open access: yes, 2019
The clinical presentation of combined pituitary hormone deficiency (CPHD) is variable. Some patients present with hypoglycemia during the neonatal period or during the first few years of life. Others present later in childhood with growth failure.
Heinrichs, Claudine   +3 more
core   +1 more source

PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk Interruption.

open access: yes, 2012
International audienceContext:Pituitary stalk interruption represents a frequent feature of congenital hypopituitarism, but only rare cases have been assigned to a known genetic cause.Objective:Using a candidate gene approach, we tested several genes as ...
Saveanu, Alexandru   +13 more
core   +1 more source

Pituitary stalk interruption syndrome (PSIS): a rare cause of congenital hypopituitarism

open access: yesThe Egyptian Journal of Radiology and Nuclear Medicine
Background Pituitary stalk interruption syndrome (PSIS) is a rare congenital malformation of the pituitary stalk that leads to hypopituitarism, presenting with a variety of endocrine dysfunctions, including delayed puberty, short stature, and ...
Bayar Ahmed Qasim   +6 more
doaj   +1 more source

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes. [PDF]

open access: yesArch Endocrinol Metab, 2023
Kırkgöz T   +7 more
europepmc   +1 more source

Hypothalamo-pituitary dysfunction in congenital toxoplasmosis

open access: yes, 1989
Three patients with congenital toxoplasmosis and hypothalamo-pituitary dysfunction are reported. All three children were growth hormone (GH) deficient, two were gonadotropin deficient and one had precocious puberty in addition to central diabetes ...
Massa, Guy   +5 more
core   +1 more source

Hypopituitarism

open access: yes, 2004
Hypopituitarism is usually caused by tumours of the hypothalamus-pituitary region, but may also arise as the consequence of pituitary inflammation, infiltration or hypoperfusion.
Hammer, F, Arlt, Wiebke
core   +1 more source

A Case of Congenital Hypopituitarism

open access: yes, 2017
Introduction: Congenital hypopituitarism is a condition, presenting with partial or total loss of a single or multiple hormones, secreted by the anterior and/or posterior part of the pituitary gland.
Kerekovska, Velina   +4 more
core   +1 more source

Central hyperthermia control after propranolol therapy in an infant with septo-optic dysplasia

open access: yesPortuguese Journal of Pediatrics
Introduction: Septo-optic dysplasia (SOD) is a congenital midline brain malformation syndrome involving the hypothalamus-pituitary axis with hypopituitarism and thermal instability.
Afonso Sousa   +2 more
doaj   +1 more source

Genetic causes of combined pituitary hormone deficiencies in humans.

open access: yes, 2012
International audienceCongenital hypopituitarism is a rare disease, usually induced by mutations of genes coding for transcription factors involved in pituitary development.
Saveanu, Alexandru   +4 more
core   +1 more source

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