Results 191 to 200 of about 1,980,181 (285)

Hypothalamic FTO upregulates BDNF to promote GnRH expression through the PI3K/Akt pathway, leading to precocious puberty. [PDF]

Front Endocrinol (Lausanne)
Zang S, Ouyang Y, Li P, Yin X.
europepmc   +1 more source

The Head Circumference Height Index (HCH‐I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 353-359, February 2026.
ABSTRACT Hypochondroplasia (HCH) is a rare skeletal dysplasia caused by pathogenic variants in the FGFR3 gene. We hypothesized that the relative disproportion between head circumference and height in HCH might be diagnostically informative and generated a simple index of head‐stature disproportion to help pediatricians diagnose HCH.
Moira S. Cheung, Ruggero Lanzafame, Karen J. Low, Tim J. Cole   +3 more
wiley   +1 more source

Identification of a novel KISS1R (GPR54) gene variant (c.505+2T>G) in a patient with congenital hypogonadotropic hypogonadism: A case report and literature review. [PDF]

Exp Ther Med
Menekse B, Ucgul E, Bakir A, Hepsen S, Ozturk Unsal I, Kizilgul M, Araki T, Cakal E.   +7 more
europepmc   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Van Wyk-Grumbach syndrome: a case report and review of the literature. [PDF]

Clin Pediatr Endocrinol
Komatsu Y, Kikuchi N.
europepmc   +1 more source

Hematocolpometra due to Imperforate Hymen

Clinical Case Reports, Volume 14, Issue 2, February 2026.
2a: Significant fluid accumulation in the vaginal canal (yellow arrows) extending into the uterine cavity (red arrows), along with bladder distension (yellow arrowheads). 2b: Bilateral hydronephrosis and ureteral dilatation. ABSTRACT Early recognition of imperforate hymen in premenarchal girls enables timely intervention to prevent serious ...
Asae Inoue, Takuya Otsuki, Kosuke Ishizuka, Kasane Ikegami, Ruri Isono, Kenya Ie, Chiaki Okuse   +6 more
wiley   +1 more source

Corticosteroid therapy in Duchenne muscular dystrophy: Management and new insights

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 310-311, March 2026.
Claudia Brogna, Eugenio Mercuri
wiley   +1 more source

Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo‐Optic Dysplasia in a Small‐for‐Gestational‐Age Infant—A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Septo‐optic dysplasia (SOD) is a rare condition with highly heterogenous clinical manifestations and can be a diagnostic challenge. It can present with pituitary hormone deficiencies, growth failure, visual impairment, and neurological symptoms. SOD can be diagnosed at different time points—from the prenatal period to childhood. Our team cared
Yuan Rui Leon Tan, Xiaoao Dong, Ngee Lek, Suresh Chandran, Odattil Geetha   +4 more
wiley   +1 more source

Puberty Starts in the Gut: Intestinal Clues to Early Puberty-Rethinking Biomarkers in Pediatric Endocrinology. [PDF]

Pharmaceuticals (Basel)
Frăsinariu OE, Vintilă TC, Vasiliu I, Ștreangă V, Rugină A, Temneanu OR, Iancu ID, Iațentiuc A, Jechel E, Florescu A.   +9 more
europepmc   +1 more source