Results 61 to 70 of about 6,503 (199)
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino +10 more
wiley +1 more source
O valor do conduto peritônio-vaginal no diagnóstico videolaparoscópico do testículo impalpável [PDF]
, 2004 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Codonho, Daniel
core
Evaluation of gonadotropin-replacement therapy in male patients with hypogonadotropic hypogonadism
Asian Journal of Andrology, 2019 Hypogonadotropic hypogonadism (HH) is a rare disease in which medical treatment has a high success rate to achieve fertility. This study aimed to analyze the efficacy of hormone replacement therapy and determine predictive factors for successful ...
Mazhar Ortac +6 more
doaj +1 more source
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Introduction: Undescended testes (UDT) is the congenital anomaly affecting children and is one of the most common anomaly. The failure of the testes either unilateral or bilateral to reach the processus vaginalis or scrotum 10-12 weeks after birth is ...
Rayoo, Shavi +3 more
core +1 more source
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 892-903, May 2026.ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani +17 more
wiley +1 more source
Undescended testes remain a dilemma despite recent advances in research
, 1990 [Extract] Opinions regarding the best treatment for undescended testes have turned nearly a complete circle in the past century, from surgery to hormone therapy and very recently back in favour of surgery.
Williams, Martyn P.L. +4 more
core +1 more source
Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity
Clinical Case Reports, Volume 14, Issue 4, April 2026.Archibald's metacarpal sign is characterized by dimpling over the knuckles when the fist is clenched, resulting from relative shortening of the fourth and fifth metacarpals compared with the third. ABSTRACT Turner syndrome (TS) often presents with subtle or overlooked clinical signs, contributing to frequent diagnostic delays. We describe the case of a
Maria Chiara Pellegrin +4 more
wiley +1 more source
Undescended testes: a consensus on management
, 2008 The mode of treatment best for undescended testes is controversial, and local traditions often override knowledge gained from randomized controlled studies.
Ritzén, EM
core +1 more source
Birth Defects Research, Volume 118, Issue 3, March 2026.ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam +3 more
wiley +1 more source