A rare case of woman with complete androgen insensitivity syndrome
Journal of Education, Health and Sport, 2022 Introduction: Androgen insensitivity syndrome (AIS) is an inherited disorder of sexual development caused by mutations in the androgen receptor encoding gene.
Anna Grądzik +4 more
doaj +1 more source
An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development [PDF]
, 2017 With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD
Ahmed, S.F. +5 more
core +1 more source
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]
, 2016 Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo +37 more
core +1 more source
Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report
Journal of Nepal Medical Association, 2019 There are various cause of Primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis.
Sundar Shrestha +3 more
doaj +1 more source
46 XY, Female. Complete androgen insensitivity syndrome: a case report
Journal of Education, Health and Sport, 2022 Introduction: Androgen insensitivity syndrome (AIS) is an inherited disorder of sexual development caused by mutations in the androgen receptor encoding gene.
Anna Grądzik +4 more
doaj +1 more source
The Pan African Medical Journal, 2016 Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen
Regragui Souhail +6 more
doaj +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources
Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]
, 2018 Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018)., +10 more
core +1 more source
Laparoscopic approach for gonadectomy in pediatric patients with intersex disorders [PDF]
, 2016 The birth of a child with a disorder of sex development (DSD) prompts a long-term management strategy that involves a myriad of professionals working with the family.
Calvo, Andres +5 more
core +1 more source
Journal of Pediatric Surgery Case Reports, 2020 Bilateral gonadectomy was the historical recommendation for patients diagnosed with complete androgen insensitivity syndrome (CAIS) due to the perceived risk of malignancy in the gonads.
Samantha M. Nemivant +2 more
doaj +1 more source