Results 31 to 40 of about 32,063 (145)

Hypospadias and Testicular Agenesis in Two German Shepherd Puppies [PDF]

Iranian Journal of Veterinary Surgery, 2016
Case Description- Hypospadias and testicular agenesis were described in this clinical report in two German shepherd puppies presented with a history of lethargy, anorexia, dysuria, urinary incontinence, severe urine scald dermatitis and pyoderma in the ...
Mahdieh Rezaei, Shahrzad Azizi, Baharak Akhtardanesh, Omid Azari, Hadi Hassibi, Talieh Taheri Bojd   +5 more
doaj  

Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract To describe clinical presentation and genetic findings in a cohort of infants with congenital hypogonadotropic hypogonadism (CHH) diagnosed before 2 years of age. From a large cohort of patients who underwent next‐generation sequencing (NGS) for CHH between 2019 and 2025, we identified all patients tested at ≤2 years of age.
Karine Aouchiche, Laure Van Wormhoudt, Kevin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet, Djamel Bendifallah, Mohamad Hage Chehade, Christelle Dib, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu   +16 more
wiley   +1 more source

22q11 deletion syndrome and urogenital manifestationsA clinicopathological case report and review of the literatureM.Vachette MD*, GE.Grant MD*, J.Bouquet de Joliniere MD.PhD*, M. Jotterand MD** N.Ben Ali MD*, A.Feki MD.PhD * and R.Brugger MD.*Department of gynecology and obstetrics, HFR, Fribourg, Switzerland.** Institute of pathology, CHUV, Lausanne, Switzerland.

Frontiers in Medicine, 2016
Background: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve ...
Jean Bouquet De Jolinière
doaj   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical 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, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Aphallia: A Rare Congenital Anomaly in a Low-Resource Setting

International Medical Case Reports Journal, 2023
Awet Ghebreberhan Mehretab,1,* Nahom Daniel Berhe,2,* Emnet Tekeste Fekadu3 1Department of Surgery, Adi Quala Hospital, Adi Quala, Eritrea; 2Department of Internal Medicine, Mendefera Zonal Referral Hospital, Mendefera, Eritrea; 3Department of ...
Mehretab AG, Berhe ND, Fekadu ET
doaj  

Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020

Andrology, Volume 14, Issue 3, Page 880-889, March 2026.
Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu, Gao Yuyang, Xu Wenli, Li Wenyan, Liu Zhen, Zhou Jiayuan, Zhu Jun, Dai Li   +7 more
wiley   +1 more source

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 35-58, January 2026.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring, Rebecca Hicks, Julia Sloan, Estefania Ramires‐Sanchez, Bianca E. Russell   +4 more
wiley   +1 more source

Identification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
The study identified a novel SEMA3A exons 6–9 deletion variant in Kallmann syndrome that impairs GnRH neuronal migration and alters cell migration, gonad development, and synaptic pathways. The study expands mutation spectrum and offers mechanistic insights for clinical diagnosis of Kallmann syndrome.
Shaolian Zang, Shasha Zhou, Qingxu Liu, Xiaoqin Yin, Pin Li   +4 more
wiley   +1 more source