Results 81 to 90 of about 1,226,810 (157)

Complete Androgen Insensitivity Syndrome in Three Sisters [PDF]

International Journal of Fertility and Sterility, 2014
Disorders of sexual development (DSD) are congenital anomalies due to atypical development of chromosomes, gonads and anatomy. Complete androgen insensitivity syndrome (CAIS), also known as testicular feminization (TF) is a rare DSD disease. The majority
Levent Verim
doaj  

Mutational analysis of the androgen receptor gene in two Indian families with partial androgen insensitivity syndrome

, 2009
Mutation in the androgen receptor gene (AR) is known to cause androgen insensitivity syndrome (AIS). In an X-linked recessive manner, an AR mutation gets transmitted to the offspring through carrier mothers in 70% of cases, the other 30% arising de novo.
Singh, S. K., D.K. Gupta, Raman, R., Gupta, D. K., S.K. Singh, A. Rastogi, Nagaraja, M. R., M.R. Nagaraja, Rastogi, A., R. Raman   +9 more
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Androgen insensitivity syndrome: do trinucleotide repeats in androgen receptor gene have any role?

, 2008
Aim: To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome (AIS) phenotype. Methods: We analyzed lengths of androgen receptor (AR)-CAG and GGN repeats in 69 AIS cases, along with 136 unrelated ...
Gupta, Nalini J., Chakravarty, Baidyanath, Singh, Lalji, Rajender, Singh, Thangaraj, Kumarasamy   +4 more
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Overlook the androgen insensitivity syndrome with a familial case study [PDF]

, 2001
To objective of this study was to present androgen insensitivity syndrome is seldom seen, in a family with three affected individuals. A 16-year-old,a 17-year-old, and a 18-year-old phenotypic female three individuals with primary amenorrhea were ...
Emral, Rıfat, Fenkçi, Semin, Fenkçi, Veysel   +2 more
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Androgen dependent stimulation of aromatase activity in genital skin fibroblasts from normals and patients with androgen insensitivity

, 1991
objective To measure the effect of androgens or aromatase activity as an index of androgen responsiveness in patients with androgen insensitivity design Genital skin fibroblasts were established in culture using primary skin explants obtained from ...
Stlllman, S. C., S. C. Stlllman, Hughes, I. A., B. A. J. Evans, I. A. Hughes, Evans, Bronwen Alice James   +5 more
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SPECTRUM OF XY DISORDERS OF SEX DEVELOPMENT IN PAKISTAN

Pakistan Armed Forces Medical Journal, 2018
Objective: To determine the clinico-endocrinal spectrum of XY Disorders of Sex Development (DSD) according to the new classification in our population. Study Design: Cross sectional study.
Dr Zujaja Hina Haroon, Aamir Ijaz, Muhammad Asad Haroon, Naveed Asif, Qudrat Ullah Malik, Muhammad Ayyub   +5 more
doaj   +2 more sources

Complete androgen insensitivity syndrome as a condition requiring interdisciplinary care – A case report

Annales Academiae Medicae Silesiensis
Complete androgen insensitivity syndrome (CAIS; also known as Morris syndrome) is a rare disorder associated with mutations in the androgen receptor gene located on the X chromosome.
Daria Rost, Julia Gniewek, Małgorzata Jekiełek, Janusz Strzelczyk   +3 more
doaj   +1 more source

Some aspects of androgen insensitivity

, 1986
The clinical and endocrine features of the syndromes of androgen insensitivity which display a wide phenotypic spectrum are reviewed. A simple, dispersed whole cell assay to study androgen receptor binding in genital skin fibroblasts has been used to ...
Hughes, I. A., Evans, Bronwen Alice James   +1 more
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Familial novel androgen receptor gene variant associated with bilateral cryptorchidism and severe male infertility: A case report

Urology 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

Androgen insensitivity syndrome: 12 years of observation [PDF]

, 2011
У статті описано клінічний випадок спостереження за пацієнткою з синдромом тестикулярної фемінізації (СТФ). Для діагностики СТФ проводили клінічні та гормональні дослідження. У 1997 і 2008 роках лапароскопічно були видалені яєчка.
Литвинов, В.В.
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