Výsledky vyhledávání - "congenital hypopituitarism"

Akademický článek

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

Autor: Hassen Hadj Kacem, Mariam Moalla, Faten Hadj Kacem, Oumeyma Trimeche, Wajdi Safi, Mouna Mnif-Feki, Mohamed Abid

Publikováno v: Endocrine and Metabolic Science, Vol 14, Iss , Pp 100160- (2024)

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. In additi

Externí odkaz: https://doaj.org/article/22a456da4b9d4fb087dbb6546bac6a30

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Akademický článek

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

Autor: Gregorio Serra, Clara Giambrone, Vincenzo Antona, Francesca Cardella, Maurizio Carta, Marcello Cimador, Giovanni Corsello, Mario Giuffrè, Vincenzo Insinga, Maria Cristina Maggio, Marco Pensabene, Ingrid Anne Mandy Schierz, Ettore Piro

Publikováno v: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-8 (2022)

Abstract Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of pati

Externí odkaz: https://doaj.org/article/f230bee370b44f85baf1efd9abfa1a8d

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Akademický článek

Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic

Autor: Youn Hee Jee, Mariam Gangat, Olga Yeliosof, Adrian G. Temnycky, Selena Vanapruks, Philip Whalen, Evgenia Gourgari, Cortney Bleach, Christine H. Yu, Ian Marshall, Jack A. Yanovski, Kathleen Link, Svetlana Ten, Jeffrey Baron, Sally Radovick

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

PurposeCongenital hypopituitarism usually occurs sporadically. In most patients, the etiology remains unknown.MethodsWe studied 13 children with sporadic congenital hypopituitarism. Children with non-endocrine, non-familial idiopathic short stature (

Externí odkaz: https://doaj.org/article/773e06597021478bb0b5917abde9cc0c

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Akademický článek

Genetic causes of hypopituitarism

Autor: Katherine Parkin, Ritika Kapoor, Ravindra Bhat, Anne Greenough

Publikováno v: Archives of Medical Science, Vol 16, Iss 1, Pp 27-33 (2019)

Hypopituitarism in neonates is rare, but has life-threatening complications if untreated. This review describes the features of hypopituitarism and the evidence for which infants in whom a genetic cause should be suspected. Importantly, neonates are

Externí odkaz: https://doaj.org/article/947bb8c52a774018baa6668c1a280ef7

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Akademický článek

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

Autor: Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge, Ivo J P Arnhold

Publikováno v: Endocrine Connections, Vol 8, Iss 5, Pp 590-595 (2019)

Aim: Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical and genetic heterogeneity of

Externí odkaz: https://doaj.org/article/aa39a5d0c0914b98a3570179af08274b

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Akademický článek

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency

Autor: Amalia Sertedaki, Elizabeth Barbara Tatsi, Ioannis Anargyros Vasilakis, Irene Fylaktou, Eirini Nikaina, Nicoletta Iacovidou, Tania Siahanidou, Christina Kanaka-Gantenbein

Publikováno v: Cells, Vol 11, Iss 13, p 2088 (2022)

Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pitui

Externí odkaz: https://doaj.org/article/bb50115ea310460bb171849249c0eb21

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

Autor: A. V. Degtyareva, A. A. Puchkova, A. V. Bolmasova, M. A. Melikyan

Publikováno v: Медицинский совет, Vol 0, Iss 2, Pp 233-237 (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 detec

Externí odkaz: https://doaj.org/article/155e4ea0eeb84d5fb7747587e016d6ef

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