Results 71 to 80 of about 15,040 (204)
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
Pantaloon Hernia: Obstructed Indirect Component and Direct Component with Cryptorchidism
Case Reports in Surgery, 2016 Cryptorchidism is a condition in which one or both testes have not passed down into the scrotal sac. It is categorized as true undescended testis in which testes are present in the normal path of descent, and as ectopic testis, in which testes are ...
Mohan Kumar Kariappa +3 more
doaj +1 more source
Clinical Endocrinology, EarlyView.ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare group of disorders of gonadotropin deficiency, either isolated or as a part of multiple pituitary hormone deficiencies (MPHD). We aimed to describe the spectrum of presentation, diagnosis, and management practices of CHH spanning 30 years at an Australian tertiary paediatric centre. This
Minha Kook +3 more
wiley +1 more source
Clinical Endocrinology, EarlyView.ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park +15 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
Clinical Genetics, EarlyView.This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska +3 more
wiley +1 more source
Clinical Genetics, EarlyView.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
Testicular torsion in foals and stallions
Equine Veterinary Education, EarlyView.Summary Testicular torsion is a rare condition in horses characterised by a change in the position of the testis due to the testicular mesentery twisting around its own axis; it can occur both when the testis is still in the abdominal cavity and when it has descended into the scrotum.
C. P. Bartmann
wiley +1 more source
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 +3 more
doaj +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