Results 21 to 30 of about 3,538 (167)

Micropenis: an important early sign of congenital hypopituitarism. [PDF]

BMJ, 1984
Micropenis is an important sign in neonates, since it may be the only clue to the diagnosis of panhypopituitarism, a potentially lethal but eminently treatable condition.
Salisbury, DM, Leonard, JV, Dezateux, CA, Savage, MO   +3 more
openaire   +3 more sources

Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies

Pediatric Reports, 2011
The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system.
Kuniko Takanashi, Yashuto Suzuki, Ayumu Noro, MInako Sugiyama, Masanori Nakanishi, Tetsuro Nagashima, Akie Nakamura, Ishizu Katsura, Toshihiro Tajima   +8 more
doaj   +1 more source

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

Cells, 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 pituitary
Amalia Sertedaki, Elizabeth Barbara Tatsi, Ioannis Anargyros Vasilakis, Irene Fylaktou, Eirini Nikaina, Nicoletta Iacovidou, Tania Siahanidou, Christina Kanaka-Gantenbein   +7 more
doaj   +1 more source

"CONGENTIAL PANHYPOPITUITARISM ASSOCIATED WITH IMPAIRED LIVER FUNCTION TESTS AND CONGENITAL HEART DISEASE" [PDF]

Acta Medica Iranica, 2006
The term congenital hypopituitarism defines deficiency of all of the pituitary hormones. Hypoglycemia and microphallus (in males) are common findings, and some infants have shown evidence of the neonatal hepatitis syndrome. We report a case of congenital
Z. Khalili-Matinzadeh
doaj   +2 more sources

Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2 [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2018
AbstractContextPersistent hypoglycemia in the newborn period most commonly occurs as a result of hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency.
Mary Ellen, Vajravelu, Jinghua, Chai, Bryan, Krock, Samuel, Baker, David, Langdon, Craig, Alter, Diva D, De León   +6 more
openaire   +2 more sources

Heterozygous defects in PAX6 gene and congenital hypopituitarism [PDF]

European Journal of Endocrinology, 2015
BackgroundThe prevalence of congenital hypopituitarism (CH) attributable to known transcription factor mutations appears to be rare and other causative genes for CH remain to be identified. Due to the sporadic occurrence of CH,de novochromosomal rearrangements could be one of the molecular mechanisms participating in its etiology, especially in ...
Masaki, Takagi, Keisuke, Nagasaki, Ikuma, Fujiwara, Tomohiro, Ishii, Naoko, Amano, Yumi, Asakura, Koji, Muroya, Yukihiro, Hasegawa, Masanori, Adachi, Tomonobu, Hasegawa   +9 more
openaire   +2 more sources

Less known aspects of central hypothyroidism: Part 2 – Congenital etiologies

Journal of Clinical & Translational Endocrinology, 2018
Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism.
Salvatore Benvenga, Marianne Klose, Roberto Vita, Ulla Feldt-Rasmussen   +3 more
doaj   +1 more source

Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years

EClinicalMedicine, 2022
Summary: Background: Childhood-onset combined pituitary hormone deficiency (CPHD) has a wide spectrum of etiologies and genetic causes for congenital disease. We aimed to describe the clinical spectrum and genetic etiologies of CPHD in a single tertiary
Johanna Hietamäki, Juho Kärkinen, Anna-Pauliina Iivonen, Kirsi Vaaralahti, Annika Tarkkanen, Henrikki Almusa, Hanna Huopio, Matti Hero, Päivi J. Miettinen, Taneli Raivio   +9 more
doaj   +1 more source

The Molecular Basis of Congenital Hypopituitarism and Related Disorders [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2019
AbstractContextCongenital hypopituitarism (CH) is characterized by the presence of deficiencies in one or more of the 6 anterior pituitary (AP) hormones secreted from the 5 different specialized cell types of the AP. During human embryogenesis, hypothalamo–pituitary (HP) development is controlled by a complex spatio-temporal genetic cascade of ...
Louise Cheryl Gregory, Mehul Tulsidas Dattani   +1 more
openaire   +2 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   +1 more source