Results 141 to 150 of about 30,131 (248)

Biochemical Selection of Prepubertal Patients with Androgen Insensitivity Syndrome by Sex Hormone-Binding Globulin Response to the Human Chorionic Gonadotropin Test [PDF]

open access: bronze, 1997
Silvano Bertelloni   +7 more
openalex   +1 more source

Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene

open access: yesEndocrinology, Diabetes & Metabolism Case Reports, 2018
Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty.
Priya Vaidyanathan, Paul Kaplowitz
doaj   +1 more source

Complete androgen insensitivity syndrome, a pedigree gene mutation analysis [PDF]

open access: yes, 2016
研究背景 雄激素不敏感综合征(AndrogenInsensitivitySyndrome,AIS),是一种常见的男性假两性畸形。是伴X连锁隐性遗传病。患者染色体核型为46,XY,但其X染色体上的雄激素受体(Androgenreceptor,AR)基因存在缺陷,可致雄激素靶器官上的AR出现缺陷,体内的雄激素不能发挥相应的作用而出现相应的临床症状。此疾病可对患者的生殖能力造成不同程度的影响,还可能引发与性发育异常相关的性心理、性行为的异常,并可能给社会和患者家庭造成难以挽回的损失 ...
杨瑞娟
core  

Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations [PDF]

open access: yes, 2007
We genotyped the androgen receptor (AR) gene in 31 Australasian patients with androgen insensitivity syndrome (AIS). The entire coding region of AR was examined including analysis of polymorphic CAG and GGN repeats in all patients.
Choong, C. S. Y.   +6 more
core  

Umbilical KeyPort bilateral laparoscopic orchiectomy in patient with complete androgen insensitivity syndrome [PDF]

open access: diamond, 2012
Felipe P. Andrade   +5 more
openalex   +1 more source

Familial novel androgen receptor gene variant associated with bilateral cryptorchidism and severe male infertility: A case report

open access: yesUrology Case Reports
Cryptorchidism is a common congenital anomaly linked to infertility and testicular cancer risk. Variants in the androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and mild (MAIS) forms.
Zohor Azher
doaj   +1 more source

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