Results 31 to 40 of about 1,444,136 (141)

NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family

open access: yesInternational Journal of Endocrinology, 2020
Pituitary stalk interruption syndrome (PSIS) is a rare congenital defect manifesting as various degrees of anterior pituitary hormone deficiency. Scattered familial cases have been found, revealing some genetic variants.
Cheng-Zhi Wang   +3 more
doaj   +2 more sources

Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome. [PDF]

open access: yesPLoS ONE, 2016
Cholestasis has been reported during the course of congenital hypothalamic-pituitary deficiency, but crucial information is lacking regarding both its origin and prognosis. We aimed to characterize the course of cholestasis and factors contributing to it
Francois-Xavier Mauvais   +4 more
doaj   +2 more sources

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

open access: yesPLoS ONE, 2020
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 some cases, a range of heterogeneous somatic anomalies.
Raja Brauner   +3 more
doaj   +2 more sources

Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation. [PDF]

open access: yesPLoS ONE, 2015
Patients with pituitary stalk interruption syndrome (PSIS) are initially referred for hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is either isolated (nonsyndromic) or associated with extra-pituitary malformations (
Céline Bar   +11 more
doaj   +2 more sources

Pituitary stalk interruption syndrome in 53 postpubertal patients: factors influencing the heterogeneity of its presentation. [PDF]

open access: yesPLoS ONE, 2013
BACKGROUND: Pituitary stalk interruption syndrome (PSIS) may induce an isolated growth hormone (GH) deficiency or multiple hypothalamic-pituitary (HP) deficiencies.
Luu-Ly Pham   +4 more
doaj   +2 more sources

Pituitary stalk interruption syndrome: diagnostic delay and sensitivity of the auxological criteria of the growth hormone research society. [PDF]

open access: yesPLoS ONE, 2011
OBJECTIVES: To study the diagnostic delay for pituitary stalk interruption syndrome (PSIS) with growth hormone deficiency (GHD) and the sensitivity of the auxological criteria of the Growth Hormone Research Society (GHRS) consensus guidelines. METHODS: A
Géraldine Gascoin-Lachambre   +3 more
doaj   +3 more sources

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2017
Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma.
Sang Soo Lee   +8 more
doaj   +2 more sources

Trio-based whole exome sequencing in patients with ectopic posterior pituitary [PDF]

open access: yesFrontiers in Pediatrics
IntroductionEctopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as pituitary stalk interruption syndrome (PSIS), in which thin or absent pituitary stalk and anterior pituitary ...
Arthur Lyra   +6 more
doaj   +2 more sources

Diagnosis of growth hormone (GH) deficiency: comparison of pituitary stalk interruption syndrome and transient GH deficiency [PDF]

open access: yesBMC Pediatrics, 2009
Background Most patients with childhood non-organic growth hormone (GH) deficiency (GHD) produce a normal GH peak as young adults. Our objectives were to better define this transient GHD and evaluate the factors influencing the growth response of ...
Brauner Raja   +4 more
doaj   +3 more sources

Risk factors and prediction model of metabolic disorders in adult patients with pituitary stalk interruption syndrome [PDF]

open access: yesScientific Reports
Pituitary stalk interruption syndrome (PSIS) is an infrequently occurring congenital condition, and there exists a dearth of systematic investigative work focusing on the clinical features and long-term outcomes in adult patients.
Deyue Jiang   +6 more
doaj   +2 more sources

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