Results 61 to 70 of about 1,444,136 (141)

CSNK2B Mutation: A Rare Cause of IGHD

Clinical Endocrinology, Volume 102, Issue 4, Page 421-426, April 2025.
ABSTRACT Objective Poirier‐Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability.
Karine Aouchiche, Pauline Romanet, Anne Barlier, Thierry Brue, Morgane Pertuit, Rachel Reynaud, Alexandru Saveanu   +6 more
wiley   +1 more source

Anesthetic Implications of Pituitary Stalk Interruption Syndrome in a Child Undergoing Nonneurological Surgery

Journal of Indian College of Anaesthesiologists
Pituitary stalk interruption syndrome (PSIS) is a rare congenital hypothalamic–pituitary disorder characterized by progressive anterior pituitary hormone deficiencies.
S. Sashmita, Anirban Brahma Adhikary, Rakshith M. Adiga, Nandakishor Hegde   +3 more
doaj   +1 more source

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

, 2017
Context: Pituitary stalk interruption syndrome (PSIS) consists of a small/absent anterior pituitary lobe, an interrupted/absent pituitary stalk, and an ectopic posterior pituitary lobe. Mendelian forms of PSIS are detected infrequently (
Eric Fliers, Raoul C Hennekam, Lidija Kovačič, Saskia M Maas, Nitash Zwaveling-Soonawala, Floor A Duijkers, A S Paul van Trotsenburg, Aldo Jongejan, Marielle Alders   +8 more
core   +1 more source

Development of specific growth charts for children with Fanconi anemia

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract Patients with Fanconi anemia (FA) are often perceived to have poor growth when general population growth curves are utilized. We hypothesize that FA patients have unique growth and aimed to create FA‐specific growth charts. Height and weight data from ages 0 to 20 years were extracted from medical records of patients treated at the Fanconi ...
Crystal Barbus, Arpana Rayannavar, Bradley S. Miller, Mica J. Jenkins, O. Yaw Addo, Ahmad Rayes, Natasha Ahrweiler, Alisha Olson, Zachary Pohlkamp, John E. Wagner, Margaret L. MacMillan   +10 more
wiley   +1 more source

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms

, 2011
International audienceBACKGROUND: Pituitary stalk interruption syndrome (PSIS) is a particular entity in the population of patients with hypopituitarism. Only rare cases have a known genetic cause.
G Simonin, J Gaudart, Simonin, Gilles, N Kaffel, P Lecomte, Brue, Thierry, A Saveanu, F Albarel, Albarel, F., Lecomte, P., A Barlier, Enjalbert, A., Saveanu, Alexandru, Brauner, R., Gaudart, J., R Brauner, Castinetti, Frederic, Barlier, Anne,, Kaffel, N., Barlier, Anne, A., T Brue, F Castinetti, E Carmona, Reynaud, Rachel, Carmona, E., R Reynaud, A Enjalbert   +26 more
core   +1 more source

14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract Orthodenticle homeobox 2 (OTX2) is a known oncogenic driver of medulloblastoma. Germline duplication of 14q22.3 including OTX2 is a rare condition reported in patients with combined pituitary hormone deficiency, oculo‐auriculo‐vertebral spectrum, and hemifacial microsomia.
Claire Blake, Kimmie Widmeyer, Kristen DAquila, Aaron Mochizuki, Teresa A. Smolarek, Natasha Pillay‐Smiley, Sun Young Kim   +6 more
wiley   +1 more source

Primary cilia, A‐kinase anchoring proteins and constitutive activity at the orphan G protein‐coupled receptor GPR161: A tale about a tail

British Journal of Pharmacology, Volume 181, Issue 14, Page 2182-2196, July 2024.
Primary cilia are non‐motile antennae‐like structures responsible for sensing environmental changes in most mammalian cells. Ciliary signalling is largely mediated by the Sonic Hedgehog (Shh) pathway, which acts as a master regulator of ciliary protein transit and is essential for normal embryonic development.
Kinjal Patel, Nicola J. Smith
wiley   +1 more source

DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary Stalk Interruption Syndrome: Etiology and Clinical Manifestations

, 2019
International audiencePituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum.
Saveanu, Alexandru, Brue, Thierry, Girard, Nadine, Reynaud, Rachel, Castinetti, Frederic, Vergier, Julia   +5 more
core   +1 more source

Post-traumatic pituitary stalk transection syndrome (PSTS) expeditiously manifested after a fall from a height combined with acute traumatic spinal cord injury: a rare case report with review of literature

Endocrine Journal
Post-traumatic pituitary stalk transection syndrome (PSTS) is an extremely rare cause of combined pituitary hormone deficiency (CPHD), affecting approximately 9 per 100,000 cases of traumatic brain injury.
Yohei Ishiki, Atsuko Tamaki, Ken-ichiro Honma, Ken Yonaha, Takamitsu Yabiku, Taiki Teruya, Moriyuki Uehara, Yoshiro Nakayama, Rei Chinen, Tsugumi Uema, Sawako Nakachi, Shiki Okamoto, Hiroaki Masuzaki   +12 more
doaj   +1 more source

Distinct pituitary hormone levels of 184 Chinese children and adolescents with multiple pituitary hormone deficiency: a single-centre study

BMC Pediatrics, 2019
Background Pituitary tumors and/or their treatment are associated with multiple pituitary hormone deficiency (MPHD) in adults, but the distinct pituitary hormone profile of MPHD in Chinese children and adolescents remains unclear.
Fengxue Wang, Jinyan Han, Xiaohong Shang, Guimei Li   +3 more
doaj   +1 more source