Results 81 to 90 of about 3,689 (193)

Diagnostic pitfalls in the assessment of congenital hypopituitarism

Journal of Endocrinological Investigation, 2014
The diagnosis of congenital hypopituitarism is difficult and often delayed because its symptoms are nonspecific.To describe the different clinical presentations of children with congenital hypopituitarism to reduce the time for diagnosis and to begin a precocious and appropriate treatment.We analyzed a cohort of five children with congenital ...
Cavarzere, P, Biban, P, GAUDINO, Rossella, Perlini, S, Sartore, L, Chini, L, Silvagni, D, ANTONIAZZI, Franco   +7 more
openaire   +2 more sources

Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism. [PDF]

PLoS Genetics, 2013
Polyalanine expansions in transcription factors have been associated with eight distinct congenital human diseases. It is thought that in each case the polyalanine expansion causes misfolding of the protein that abrogates protein function.
James Hughes, Sandra Piltz, Nicholas Rogers, Dale McAninch, Lynn Rowley, Paul Thomas   +5 more
doaj   +1 more source

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Biallelic variants in FARSA or FARSB are associated with reduced cytoplasmic phenylalanyl‐tRNA synthetase (FARS1) activity and underlie a multisystem syndrome characterized by growth limitation, developmental delay, brain calcifications, interstitial lung disease (ILD), and liver involvement.
Y. Aelvoet, P. Verloo, A. Vanlander, S. Vande Velde, S. Van Biervliet, P. De Bruyne, L. Hoste, A. Dheedene, L. Pottie, A. Hoorens, M. Mendes, R. De Bruyne   +11 more
wiley   +1 more source

Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review

Frontiers in Pediatrics
Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid diagnosis and a specific treatment.
Chiara Gagliano, Olga Burattini, Luigi Paradisi, Sarah Recchione, Lucia Santoro, Laura Caponi, Annamaria Ciaschini, Maria Elena Lionetti, Simona Gatti   +8 more
doaj   +1 more source

Less known aspects of central hypothyroidism: Part 1 – Acquired etiologies

Journal of Clinical & Translational Endocrinology, 2018
Central hypothyroidism (CH) is a rare cause of hypothyroidism. CH is frequently overlooked, as its clinical picture is subtle and includes non-specific symptoms; furthermore, if measurement of TSH alone is used to screen for thyroid function, TSH ...
Salvatore Benvenga, Marianne Klose, Roberto Vita, Ulla Feldt-Rasmussen   +3 more
doaj   +1 more source

Human Pituitary Organoids: Transcriptional Landscape Deciphered by scRNA‐Seq and Stereo‐Seq, with Insights into SOX3's Role in Pituitary Development

Advanced Science, Volume 12, Issue 14, April 10, 2025.
An optimized protocol is developed to differentiate human iPSCs into pituitary organoids and the cellular composition, intercellular interactions, and spatial organization within pituitary organoids are characterized via scRNA‐seq and Stereo‐seq.
Shengjie Wang, Deyue Jiang, Yan Xiao, Qiaozhen Qin, Heyang Zhang, Lingtong Ye, Jide Jin, Xiaoxia Jiang, Qinghua Guo   +8 more
wiley   +1 more source

Hypopituitarism Induced by Continuous Infusion of PGI2 Analogues: A Case Series and the Role of ACTH Screening and Hydrocortisone Treatment

Pulmonary Circulation, Volume 15, Issue 2, April 2025.
ABSTRACT Hypopituitarism has been reported in patients receiving continuous infusions of prostaglandin I2 (PGI2) analogues for pulmonary hypertension (PH). However, these patients' clinical characteristics, treatment, and prognoses remain unclear.
Taijyu Satoh, Yuichi Tamura, Noriaki Takama, Hiromi Matsubara, Nobuhiro Tanabe, Takumi Inami, Takahiro Hiraide, Kohtaro Abe, Yoshihiro Dohi, Yoshito Ogihara, Takeshi Ogo, Shiro Adachi, Kazuhiko Nakazato, Ichizo Tsujino, Hideki Ota, Kohei Komaru, Haruka Sato, Yuta Tezuka, Yoshikiyo Ono, Rika Suda, Kazuya Hosokawa, Sarasa Isobe, Takatoyo Kiko, Yuki Koga, Junichi Nakamura, Koichiro Sugimura, Masaru Hatano, Yoshihiro Fukumoto, Satoshi Yasuda   +28 more
wiley   +1 more source

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

Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly

Molecular Genetics &Genomic Medicine, Volume 13, Issue 3, March 2025.
This study identified two GLI3 mutation sites c.3342dupC (p. A1115Rfs*14, unreported) and c.4431dupT (p. Glu1478Ter) from two families affected by polydactyly. The mutations may cause the polydactyly, providing new evidence for clinical diagnosis. ABSTRACT Background Polydactyly is a prevalent limb deformity with an autosomal dominant inheritance ...
Yongzhen Qi, Kai Liu, Yuda Wei, Xiaxia Liu, Liangqian Jiang, Juan Teng, Baoqiang Chong, Shuqi Zheng, Xiangyu Zhao, Lin Li   +9 more
wiley   +1 more source

Imaging of pediatric pituitary endocrinopathies

Indian Journal of Endocrinology and Metabolism, 2012
Accurate investigation of the hypothalamic-pituitary area is required in pediatric patients for diagnosis of endocrine-related disorders. These disorders include hypopituitarism, growth failure, diencephalic syndrome, delayed puberty, precocious puberty,
Vikas Chaudhary, Shahina Bano
doaj   +1 more source