Results 61 to 70 of about 65,948 (199)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1719-1724, July 2026.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi   +11 more
wiley   +1 more source

Modern competency‐based teaching of human sexual development

open access: yesAnatomical Sciences Education, Volume 19, Issue 7, Page 1086-1096, July 2026.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler   +2 more
wiley   +1 more source

orsed Intraabdominal Testis: A Rarely Considered Diagnosis

open access: yesWestern Journal of Emergency Medicine, 2006
Cryptorchidism, or maldescended testis, is a common problem encountered in pediatric age groups. Despite more than 100 years of research, many aspects of cryptorchidism are not well defined and remain controversial.
Osime, O C, Momoh, M I, Elusoji, S O
doaj  

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Harshita Agarwal   +4 more
wiley   +1 more source

Individualized treatment of undescended testis

open access: yes, 2007
Undescended testis is one of the most common congenital anomalies requiring surgery. The guideline for the treatment of undescended testis was published by Japanese Society of Pediatric Urology in 2005.
杉多, 良文   +2 more
core  

Torsion of the undescended testis detected by 99mTc testicular scintigraphy: a case report [PDF]

open access: yes, 2016
We reported a case of torsion of the undescended testis in a 9-month-old boy which was diagnosed with 99mTc testicular scin­tigraphy. The scan showed diffuse increased activity in the location of the undescended testis and no photopenic area was visible.
Tavakkoli, Mahmoud   +4 more
core   +1 more source

Amyand's hernia, appendicitis, and undescended testis: The amyand's triad

open access: yesJournal of Indian Association of Pediatric Surgeons, 2018
Inguinal hernia with appendix as content, classically called as Amyand's Hernia has been well documented in children. Undescended testis with an associated hernia is also not uncommon and is an indication for early orchidopexy.
Vembar Dhanasekarapandian   +2 more
doaj   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

open access: yes
Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2288-2292, September 2026.
Sangeetha Yoganathan   +10 more
wiley   +1 more source

Azoospermia, Atrophy, and Asymmetry: Unilateral Sertoli Cell Tumor as a Rare and Overlooked Cause of Male Infertility: A Case Report and Literature Review

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Sertoli cell tumors are uncommon sex‐cord stromal tumors making up < 2% of testicular tumors and have been reported to be associated with endocrine dysfunction that could compromise male fertility. Herein, we present a 34‐year‐old Pakistani male with primary infertility, azoospermia, enlargement of right testis, and contralateral severe ...
Rao Nouman Ali   +7 more
wiley   +1 more source

Prevalence and risk factors of testicular microlithiasis in patients with hypospadias: a retrospective study

open access: yesBMC Pediatrics, 2018
Background It has been described that the incidence of testicular microlithiasis is high in several congenital disorders which may be associated with testicular impairment and infertility.
Michiko Nakamura   +8 more
doaj   +1 more source

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