Results 101 to 110 of about 18,332 (236)

Unilateral ductus deferens aplasia with terminal cystic dilation in a Bernese mountain dog

Veterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract An incidental caudal abdominal mass was discovered in a 5‐year‐old, male, entire Bernese mountain dog. Investigations showed a terminal cystic dilation of the left ductus deferens. Castration, along with surgical resection of the mass, was performed, and histopathology of the mass and ductus deferens was consistent with segmental aplasia of ...
Daisy Johnson, Louisa Price, Marie Beales, Joanna Stephenson   +3 more
wiley   +1 more source

Smoking and its association with cryptorchidism in Down syndrome [PDF]

, 2017
Summary Introduction: Cryptorchidism is a common and prevalent condition in patients with Down syndrome. Environmental factors, such as smoking, can be associated with malformations during fetal development. The study of the prevalence of cryptorchidism
Adrianne Maria Berno de Rezende Duarte, José de Bessa, André Avarese de Figueiredo, José Murillo de Bastos-Netto, Frederico Cantarino Cordeiro Araujo, Maira Camargo, Jose Murillo Bastos Netto, Sandra Helena Cerrato Tibiriçá, José de Bessa Júnior, Maíra Lorenzo de Sá Camargo, Adrianne Maria Berno Rezende Duarte, Augusto Alves Pinho Vieira, Flávia Cristina de Carvalho Mrad, Augusto Alves Pinto Vieira   +13 more
core   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Orchidopexy Results in the Recovery of Sperm in the Ejaculate of a Non-obstructive Azoospermic Adult with Bilateral Cryptorchidism — A Case Report

Fertility & Reproduction, 2019
Cryptorchidism or undescended testis is one of the most common pediatric disorders of the male endocrine glands and the most typical congenital abnormality identified at birth.
Huy Quang Duong, Van Kim Hoang Tang, Georgios Liperis, Le Dang Khoa   +3 more
doaj   +1 more source

Cryptorchidism associated with myelomeningocele

, 1998
Objective: The authors studied 75 male infants with meningomyelocele (MMC) to analyse the association with cryptorchidism. Methods: All infants were diagnosed at birth and surgically corrected after 24–48 h.
Tortorolo, Luca, Ruggiero, Antonio, Salvaggio, Elio, Ferrara, Pietro, Pulitano, Silvia Maria, Rossodivita, Aurora Natalia   +5 more
core  

Spectrum of Hypogonadism and Its Management in Adolescents With Prader‐Willi Syndrome: A Retrospective Cohort Study Over 35 Years

Clinical Endocrinology, Volume 105, Issue 1, Page 51-59, July 2026.
ABSTRACT Context Adult data indicate that hypogonadism is underdiagnosed and undertreated in Prader‐Willi Syndrome (PWS). Objectives We aimed to describe the spectrum of pubertal development, and the diagnosis and treatment of hypogonadism in paediatric/adolescent patients with PWS. Design/Patients A retrospective cohort study of patients with PWS aged
Helen Nguyen, Geoffrey Ambler, Yoon Hi Cho   +2 more
wiley   +1 more source

Pre-referral ultrasound for cryptorchidism: Still common, still not necessary

Aim Evidence-based guidelines do not recommend imaging in cryptorchidism, but anecdotally most referrals include an ultrasound report. We aimed to assess the frequency, utility and burden of imaging in children referred with presumptive disorders of ...
McBride, CA, Patel, B, Boyd, GE
core   +1 more source

Alcohol binge drinking during pregnancy and cryptorchidism

, 2009
Recent studies have suggested gestational weeks 8-14 as a time window of particular importance to the intrauterine development of the male genitalia, and prenatal exposure to alcohol is under suspicion as a risk factor for cryptorchidism.
Olsen, Jørn, Grønbaek, Morten, Strandberg-Larsen, Katrine, Jensen, Morten Søndergaard, Ramlau-Hansen, Cecilia Høst   +4 more
core   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source