Results 41 to 50 of about 265,208 (194)

Cholestatic neonatal hepatitis: A rare onset of congenital hypopituitarism

, 2014
Thje paper presents a clinical study on patients with Cholestatic neonatal hepatitis.
De Giovanni, Donatella, Pellegrino, Michele, PETTOELLO MANTOVANI, MASSIMO, Maccarone, Pasquale, Demeco, Carmela, Russo, Maria Lazzarina, Sacco, Emanuela, Campanale, Caterina, Sacco, Michele, Dell’Anna, Alice, Melino, Rosa   +10 more
core   +1 more source

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

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 Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases

Arthritis Care &Research, Volume 78, Issue 10, Page 1449-1466, October 2026.
Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci, Megan R. W. Barber, Ann E. Clarke, Sindhu R. Johnson, Anselm Mak, Hermine I. Brunner, Murat Inanc, Rosalind Ramsey‐Goldman, Guillermo Ruiz‐Irastorza, Ellen M. Ginzler, John G. Hanly, Alexandra Legge, Cynthia Aranow, Laurent Arnaud, Nathalie Costedoat‐Chalumeau, Dafna D. Gladman, Søren Jacobsen, Michelle Petri, Clovis A. Silva, Évelyne Vinet, Alexandre E. Voskuyl, SDI Revision Literature Review Groups, SDI Revision Delphi Panel, SDI Revision Item Reduction Committee, SDI Revision Clinical Domain Groups, Ian N. Bruce   +25 more
wiley   +1 more source

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

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   +1 more source

Long‐term clinical trajectory of microvillus inclusion disease associated with STXBP2‐related familial hemophagocytic lymphohistiocytosis type 5: A case report

Journal of Parenteral and Enteral Nutrition, Volume 50, Issue 7, Page 1040-1044, October 2026.
Abstract Familial hemophagocytic lymphohistiocytosis type 5 is caused by biallelic pathogenic variants in STXBP2, which encodes syntaxin‐binding protein, a key regulator of vesicle trafficking. In addition to immune dysregulation, patients with familial hemophagocytic lymphohistiocytosis type 5 may present with severe, persistent diarrhea associated ...
Hiroyuki Tanaka, Mariko Sekiguchi, Yuko Kajiho, Tetsuo Ushiku, Jun Fujishiro, Motohiro Kato   +5 more
wiley   +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. Report of 23 cases [PDF]

, 2008
Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency. It is less common than growth hormone deficiency, which has an incidence of 1:4.000 to 1:8.000 live newborns.
Cassorla Goluboff, Fernando, Unanue Morales, Nancy, Codner Dujovne, Ethel, Mericq, Verónica, Lammoglia, Juan Javier, Eyzaguirre, Francisca, Román, Rossana   +6 more
core  

Neonatal Hypopituitarism: Approaches to Diagnosis and Treatment [PDF]

, 2019
Hypopituitarism is defined as a decreased release of hypophyseal hormones, which may be caused by disease of the pituitary gland disease or hypothalamus. The clinical findings of neonatal hypopituitarism depend on the causes and on presence and extent of
Ahmet Özdemir, Nihal Hatipoğlu, Selim Kurtoğlu   +2 more
core   +1 more source