Results 21 to 30 of about 3,553,850 (264)

A newborn with combined pituitary hormone deficiency developing shock and sludge

Journal of Pediatric Endocrinology and Metabolism, 2017
AbstractA male neonate was born at 41 weeks of gestation with a birth weight of 3320 g. Artificial respiratory management was required due to respiratory disturbance 1 h after birth, and subsequently catecholamine-refractory low cardiac output-induced shock occurred.
Yasuhiro, Ueda, Hayato, Aoyagi, Toshihiro, Tajima   +2 more
openaire   +3 more sources

Heart Rate Variability in Postoperative Patients with Nonfunctioning Pituitary Adenoma [PDF]

Endocrinology and Metabolism, 2021
Background Decreased heart rate variability (HRV) has been reported to be associated with cardiac autonomic dysfunction. Hypopituitarism in nonfunctioning pituitary adenoma (NFPA) is often linked to increased cardiovascular mortality.
Jeonghoon Ha, Hansang Baek, Chaiho Jeong, Minsoo Yeo, Seung-Hwan Lee, Jae Hyoung Cho, Ki-Hyun Baek, Moo Il Kang, Dong-Jun Lim   +8 more
doaj   +1 more source

Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant

Archives of Endocrinology and Metabolism, 2022
SUMMARY We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T).
Julia Haddad Labello, Anna Flávia Figueredo Benedetti, Bruna Viscardi Azevedo, Alexander Augusto de Lima Jorge, Valter Angelo Sperling Cescato, Sergio Rosemberg, Fernando Pereira Frasseto, Ivo Jorge Prado Arnhold, Luciani Renata Silveira de Carvalho   +8 more
doaj   +1 more source

Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency. [PDF]

Int J Mol Sci, 2020
Combined pituitary hormone deficiency represents a disorder with complex etiology. For many patients, causes of the disease remain unexplained, despite usage of advanced genetic testing. Although major and common transcription factors were identified two decades ago, we still struggle with identification of rare inborn factors contributing to pituitary
Budny B, Karmelita-Katulska K, Stajgis M, Żemojtel T, Ruchała M, Ziemnicka K.   +5 more
europepmc   +4 more sources

Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome

Frontiers in Pediatrics, 2021
Introduction: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more pituitary hormones. The pituitary gland is a central regulator of growth, metabolism, and reproduction.
Laura Bosch i Ara, Harshini Katugampola, Mehul T. Dattani, Mehul T. Dattani   +3 more
doaj   +1 more source

Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review

Frontiers in Endocrinology, 2023
BackgroundPituitary stalk interruption syndrome (PSIS) is a congenital disease commonly found in patients with combined pituitary hormone deficiency (CPHD). Most PSIS patients manifest growth retardation and delayed puberty. We report a rare case of PSIS
Zhaoxiang Liu, Wenhui Zhao, Chenxiang Cao, Yanlei Wang, Luqi Xiao, Xiaojing Wang, Chenxi Jin, Jianzhong Xiao   +7 more
doaj   +1 more source

Multiple pituitary hormone deficiency: beware of combined hormones deficiency [PDF]

International Journal of Pediatric Endocrinology, 2013
Multiple Pituitary Hormone Deficiency (MPHD) is an endocrine disorder due to combination of pituitary hormones deficiencies. Clinical manifestations vary due to the combination of individual hormone deficiencies. The diagnosis is established based on history, signs and symptoms, hormonal and radiological examination.
Rochmah, Nur, Faizi, Muhammad, Yuniari, Achmad, Harjantien, Netty   +3 more
openaire   +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

Archives of Endocrinology and Metabolism, 2023
Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH.
Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Hüseyin Anıl Korkmaz, Filiz Hazan, Behzat Özkan   +7 more
doaj   +1 more source

Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature

Molecular Genetics and Metabolism Reports, 2021
Failure to thrive is one of the most common complaints in the endocrinology and genetics clinic. An 8-month-old girl with presentation of motor developmental delay, failure to thrive, and midline facial defects, with history of hypoglycemia at birth and ...
Wei-Yu Chen, Dau-Ming Niu, Li-Zhen Chen, Chia-Feng Yang   +3 more
doaj   +1 more source

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency [PDF]

, 2019
The genetic causes of combined pituitary hormone deficiency remain elusive in most patients. Recently, incompletely penetrant heterozygous mutations in ROBO1 have been described in patients with pituitary stalk interruption syndrome.
Hiroyuki Moriuchi, Watanabe, Satoshi, Minoru Morikawa, Koh-ichiro Yoshiura, Shirakawa, Toshihiko, Toshihiko Shirakawa, Kinoshita, Eiichi, Dateki, Sumito, Mishima, Hiroyuki, Morikawa, Minoru, Hiroyuki Mishima, Eiichi Kinoshita, Sumito Dateki, Satoshi Watanabe, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki   +15 more
core   +2 more sources