نتایج جستجو برای: androgen insensitivity syndrome

تعداد نتایج: 647111  

Journal: :Academia Journal of Biololy 2022

Androgen insensitivity syndrome (AIS) is a rare X-linked recessive androgen receptor (AR) disorder. However, the overlap in clinical manifestations between AIS and other disorders of sex development can cause diagnostic difficulties. Applying whole coding region sequencing method an optimal for diagnosis AIS. In this study, whole-exome was performed to screen mutations AR gene as well genes rel...

2015
Hyoun Nam Chung-Hoon Kim Min-Young Cha Jae-Min Kim Byung-Moon Kang Han-Wook Yoo

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is a multifactorial polygenic disorder with a broad spectrum of clinical manifestations. Although pathogenesis is still unclear, androgen receptor (AR) gene polymorphism may be one of the etiologic factors of PCOS. AR gene polymorphism has been also associated with other forms of ...

2013
Alfonsa Pizzo Antonio Simone Laganà Irene Borrielli Nella Dugo

Androgen Insensitivity Syndrome (AIS) could be considered as a disease that causes resistance to androgens actions, influencing both the morphogenesis and differentiation of the body structures, and systems in which this hormone exerts its effects. It depends on an X-linked mutations in the Androgen Receptor (AR) gene that express a variety of phenotypes ranging from male infertility to complet...

Journal: :The Journal of Obstetrics and Gynecology of India 2015

Journal: :The Journal of clinical endocrinology and metabolism 2009
Kahina Boukari Geri Meduri Sylvie Brailly-Tabard Jean Guibourdenche Maria Luisa Ciampi Nathalie Massin Laetitia Martinerie Jean-Yves Picard Rodolfo Rey Marc Lombès Jacques Young

CONTEXT Puberty is associated with increased testicular testosterone (TT) synthesis, which is required to trigger spermatogenesis and to repress anti-Mullerian hormone (AMH) production. However, testicular gonadotropin stimulation during fetal and newborn life neither initiates spermatogenesis nor represses AMH. OBJECTIVE We postulated that a lack of androgen receptor (AR) expression in Serto...

Journal: :European review for medical and pharmacological sciences 2010
D Dell'Edera A Malvasi E Vitullo A A Epifania A Tinelli F Laterza A Novelli E Pacella E Mazzone G Novelli

BACKGROUND The androgen insensitivity syndrome (AIS) is a disease connected with the inactivation of AR due to a mutation that inactivate male sexual differentiation, and causes a spectrum of phenotypic anomalies having as a common aspect the loss of reproductive characteristics. PATIENTS In this paper the clinical, endocrinological and molecular features of three patients are reported. The f...

Journal: :The Journal of Obstetrics and Gynecology of India 2012

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