Results 91 to 100 of about 18,332 (236)
Andrology, EarlyView.ABSTRACT Background Male hypogonadotropic hypogonadism typically presents with azoospermia and is one of the few causes of infertility amenable to a medical intervention. Gonadotropin therapy offers a chance to restore spermatogenesis and fertility in these individuals.
Manou Huijben +3 more
wiley +1 more source
Maternal bereavement and cryptorchidism in offspring
, 2015 BACKGROUND: Cryptorchidism (undescended testis) is a common anomaly with largely unexplained etiology. Animal studies have suggested maternal emotional stress as a potential risk factor, but this has not been studied in humans.
Ingstrup, Katja Glejsted +7 more
core +1 more source
Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome
Clinical Endocrinology, EarlyView.ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle +9 more
wiley +1 more source
Clinical Endocrinology, EarlyView.ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah +6 more
wiley +1 more source
Exposure to polychlorinated compounds and cryptorchidism; A nested case-control study.
PLoS ONE, 2020 BackgroundMaldescended testes or cryptorchidism is a genital birth defect that affects 2-9% of all male new-borns. Over the last 40 years there have been reports of increased prevalence in countries like the US, the UK and the Scandinavian countries ...
Jonatan Axelsson +6 more
doaj +1 more source
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder +7 more
wiley +1 more source
Transfusion Medicine, EarlyView.Abstract Objectives We aimed to optimise the infant ABO typing workflow by evaluating the performance of the ORTHO VISION analyser (VISION; QuidelOrtho, San Diego, CA, USA) and establishing a targeted manual reflex protocol. Background The application of automated analysers in infants poses challenges due to weak antigen and antibody expression ...
Eunhui Ji +4 more
wiley +1 more source
The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism
International Brazilian Journal of Urology, 2006 PURPOSE: We examined the significance of the CAG repeat polymorphism in the pathogenesis of cryptorchidism. MATERIALS AND METHODS: Genomic deoxyribonucleic acid (DNA) was extracted from blood samples from 42 cryptorchid boys and from 31 non-cryptorchid ...
M. Silva-Ramos +5 more
doaj +1 more source
, 1992 症例は35歳の男性、左鼠径部腫瘍で発覚し、臨床的に精巣腫瘍testicular tumorと診断された。腫瘍切除後、病理組織学的に検索した結果、胚細胞腫germ cell tumorの一種である精上皮種seminomaと診断した。7歳頃より停留睾丸が存在していたので、精巣腫瘍は停留睾丸から発生した精上皮種と考えられた。A 35-year-old male was observed groin tumor incidentally and was clinically diagnosed as ...
ミヤモト, カズオ +23 more
core +1 more source