Results 131 to 140 of about 28,940 (212)

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  

Complete Androgen Insensitivity Syndrome and bone mass. Basal evaluation and after long term estrogen treatment [PDF]

open access: yes, 2015
L’osso è un tessuto target per estrogeni ed androgeni ma l’azione singola e la sinergia tra i due non sono compresi interamente. Le donne affette da Sindrome da Insensititvità Completa agli Androgeni (CAIS) hanno un cariotipo 46XY ma presentano una ...
Berra, Marta <1979>
core   +1 more source

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  

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

A nemi differenciálódás zavarainak genetikai háttere = Genetic background of disorders in sexual differentiation [PDF]

open access: yes, 2006
1. Az Y-kromoszóma génjeinek szerepe a gonad differenciálódás zavaraiban. Y-kromoszóma szekvencia hordozása Turner-szindrómás (TS) betegben fokozott veszélyt jelent gonad neoplasia kialakulására.
Dobos, Matild   +6 more
core  

A boy or a girl? : Parental, family and whanau information needs when a child is born with an intersex/DSD condition : a thesis presented in fulfilment of the requirements for the degree of MPHIL in Nursing at Massey University, Auckland, New Zealand [PDF]

open access: yes, 2008
Is it a girl or a boy? This is a question that new parents assume will be answered at the birth, or even in the months leading up to the birth of their baby.
McCarthy, Gabrielle Leigh
core  

Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome

open access: yesSexual Development, 2021
Anil Kumar   +7 more
semanticscholar   +1 more source

Reseptor Androgen dan Organ Reproduksi Pria

open access: yesJKS (Jurnal Kedokteran Syiah Kuala), 2006
Abstrak.   Hormon  androgen  berperan  penting    dalam   perkembangan   scksual    individu    jaruan.   Mormon   androgen yang  penting  adalah   hormon  testosteron   dan  hormon  dyindrotestosteron.
Zulfitri Zulfitri
doaj  

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