Results 11 to 20 of about 3,689 (193)

Clinical Presentation of Congenital Hypopituitarism: Lessons From a Large Academic Centre. [PDF]

Clin Endocrinol (Oxf)
ABSTRACT Objective Pituitary hormone deficiencies are associated with considerable morbidity, yet the variability of presentation and evolution of congenital hypopituitarism remains unexplored. This study investigated differences in presentation of congenital isolated pituitary hormone deficiency (cIPHD) versus congenital multiple pituitary hormone ...
Ladd JM, Pyle-Eilola AL, Mamilly L, Chaudhari M, Henry RK.   +4 more
europepmc   +4 more sources

Congenital hypopituitarism in familial Turner syndrome cases caused by a highly prevalent PROP1 gene mutation in Tunisia

Endocrine and Metabolic Science
Background: Turner syndrome (TS) is a genetic disorder found only in females who are completely or partially missing an X chromosome. It is rarely inherited from parent to offspring and is not reported to be associated with any causal gene.
Hassen Hadj Kacem, Mariam Moalla, Faten Hadj Kacem, Oumeyma Trimeche, Wajdi Safi, Mouna Mnif-Feki, Mohamed Abid   +6 more
doaj   +2 more sources

CHOLESTASIS, HYPOGLYCEMIA AND UNUSUAL PHENOTYPE AS THE MANIFESTATIONS OF CONGENITAL HYPOPITUITARISM AS PART OF MONOSOMY 18P- SYNDROME

Медицинский совет, 2018
The monosomy 18p-syndrome refers to an extremely rare disorder (1:50,000 live-born infants). Congenital hypopituitarism is one of the manifestations of this syndrome in 13% of cases. The rarity of this pathology causes difficulties in the early detection
A. V. Degtyareva, A. A. Puchkova, A. V. Bolmasova, M. A. Melikyan   +3 more
doaj   +2 more sources

Congenital hypopituitarism: Monitoring after coronary artery bypass grafting

Annals of Cardiac Anaesthesia, 2010
Cardiovascular disease in patients with congenital hypopituitarism is not rare; however, there is a lack of reports referring to cardiac interventions in such patients.
Siminelakis Stavros, Kotsanti Angeliki, Baikoussis Nikolaos, Andrikoula Maria, Bairaktari Eleni, Papadopoulos George   +5 more
doaj   +4 more sources

Isolated Fetal Sinus Bradycardia as a First Sign of Congenital Hypopituitarism. [PDF]

CJC Open, 2020
Lapointe S, Rottembourg D, Dallaire F.
europepmc   +3 more sources

Hypopituitarism: genetic, developmental, and acquired etiologies with a focus on the emerging concept of autoimmune hypophysitis [PDF]

Endocrine Journal
Hypopituitarism, characterized by reduced secretion of pituitary hormones, profoundly impacts systemic metabolic homeostasis and quality of life. Its etiology ranges from congenital anomalies in pituitary development to acquired conditions involving ...
Hironori Bando, Shin Urai, Keitaro Kanie, Masaaki Yamamoto   +3 more
doaj   +2 more sources

A case of congenital hypopituitarism harboring a nonsense variant in the <i>LHX4</i> gene. [PDF]

Clin Pediatr Endocrinol
Koizumi M, Etani Y, Kinoshita S, Yamazaki N, Okamoto N, Ida S, Kawai M.   +6 more
europepmc   +3 more sources

Generation of an iPSC line from congenital hypopituitarism patient with a nonsense heterozygous variant in FOXA2

Stem Cell Research
Forkhead box A2 (FOXA2) is a pioneer transcription factor, necessary for human development. Mutations in FOXA2 were recently associated with congenital hypopituitarism (CH); however, the pathogenic mechanism remains unknown.
Camilletti Maria Andrea, Chirino Felker Gonzalo Tomás, Castañeda Sheila, Zabalegui Federico, Amin Guadalupe, Belgorosky Alicia, Ciaccio Marta, Di Palma Maria Isabel, Vaiani Elisa, Waisman Ariel, Miriuka Santiago, Pérez Millán María Inés, Moro Lucia Natalia   +12 more
doaj   +2 more sources

OR17-4 Hormone Replacement Promotes Sexual Maturation and Fertility Restoration in Mice With Congenital Hypopituitarism Harboring Prop1 Mutation [PDF]

J Endocr Soc, 2022
Robison José da Cruz, Letícia Kaory Tamashiro, Mariana Matera Veras, Juliana Moreira Silva, Luciani R. Carvalho, Nicholas Silvestre de Souza Trigueiro, Victor Yuji Yariwake, Bruna Azevedo   +7 more
europepmc   +3 more sources

FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours. [PDF]

Pituitary
Orsmond A, Krishnan G, Palmer LJ, De Sousa SMC, McCormack A.   +4 more
europepmc   +3 more sources