Results 51 to 60 of about 3,538 (167)

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. [PDF]

J Clin Endocrinol Metab, 2019
AbstractContextCongenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps with Prader-Willi syndrome, with patients also manifesting arthrogryposis. L1 syndrome, a group of X-linked disorders that include hydrocephalus and lower limb spasticity,
Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A, Dattani MT.   +12 more
europepmc   +6 more sources

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

Genetic causes of hypopituitarism

Archives of Medical Science, 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.
Katherine Parkin, Ritika Kapoor, Ravindra Bhat, Anne Greenough   +3 more
doaj   +1 more source

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
Congenital hypothyroidism in a 3‐year‐old Persian cat was diagnosed via low total thyroxine levels unresponsive to TSH stimulation, alongside clinical signs of dwarfism and renal failure. Levothyroxine therapy significantly improved renal function and activity within 1 week.
Morteza Ezati Kakalar, Farkhondeh Fahim Dezhban, Amin Zamani, Sina Sabour Razlighi   +3 more
wiley   +1 more source

Kisspeptin as a test of hypothalamic dysfunction in pubertal and reproductive disorders

Andrology, Volume 14, Issue 4, Page 1002-1016, May 2026.
Abstract The hypothalamic–pituitary–gonadal axis is regulated by the gonadotropin‐releasing hormone pulse generator in the hypothalamus. This is comprised of neurons that secrete kisspeptin in a pulsatile manner to stimulate the release of GnRH, and, in turn, downstream gonadotropins from the pituitary gland, and subsequently sex steroids and ...
Aureliane C. S. Pierret, Aaran H. Patel, Elisabeth Daniels, Alexander N. Comninos, Waljit S. Dhillo, Ali Abbara   +5 more
wiley   +1 more source

Congenital hypopituitarism: Monitoring after coronary artery bypass grafting

Annals of Cardiac Anaesthesia, 2010
Cardiovascular disease in patients with congenital hypopituitarism is not rare; however, there is a lack of reports referring to cardiac interventions in such patients.
Siminelakis Stavros, Kotsanti Angeliki, Baikoussis Nikolaos, Andrikoula Maria, Bairaktari Eleni, Papadopoulos George   +5 more
doaj  

Severe hepatopulmonary syndrome with end-stage liver cirrhosis associated with pan-hypopituitarism in a pediatric patient

Journal of Clinical and Translational Endocrinology Case Reports
Cholestasis in the neonatal period requires a prompt and thorough evaluation. Panhypopituitarism is an uncommon but known cause of cholestasis. Here we present a rare and late complication of liver disease secondary to congenital hypopituitarism ...
Shawn A. Haupt, Jessica C. Chang, Roya Zarpak, Arash R. Zandieh, Nada A. Yazigi, Udeme D. Ekong, Juan F. Guerra, Thomas M. Fishbein, Cal S. Matsumoto, Alexander H. Kroemer, Khalid M. Khan   +10 more
doaj   +1 more source

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

BMC Endocrine Disorders, 2023
Background Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies.
Yoshinari Obata, Kana Takayama, Hideyuki Nishikubo, Aoki Tobimatsu, Izumi Matsuda, Yuhei Uehara, Yumiko Maruo, Hiroyuki Sho, Motohiro Kosugi, Tetsuyuki Yasuda   +9 more
doaj   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

Fertility induction associated with improved peripheral reproductive parameters in male Prop1df/dfmice subjected to GH and levothyroxine replacement [PDF]

Archives of Endocrinology and Metabolism
Objective: The aim of this study was to characterize the parameters of reproductive anatomy and pituitary hormone expression levels in ames dwarf mice (Prop1df/df).
Bruna Viscardi Azevedo, Juliana Moreira Marques, Nicholas Trigueiro, Victor Yuji Yariwake, Mariana Matera Veras, Leticia Kaory Tamashiro, Robison Cruz, Luciani R. Silveira de Carvalho   +7 more
doaj   +1 more source