THREE SIBLINGS WITH ANDROGEN INSENSITIVITY SYNDROME

Authors

  • Sisay Teklu Waji Addis Ababa University, School of Medicine Department of Obstetrics and Gynecology Mob: +251 911 227806
  • Jakob Schneider Addis Ababa University, School of Medicine, Department of Pathology
  • Zewdu Terefework CEO, Molecular Geneticist MRC-ET Molecular Diagnostics
  • Benadam Shimeles Addis Ababa University, School of Medicine, Department of Obstetrics and Gynecology. Mob:+251929112558
  • Shemsu Abraham Addis Ababa University, School of Medicine, Department of Pathology. Mob:+251918295377
  • Endalk Bonsa Addis Ababa University, School of Medicine, Department of Obstetrics and Gynecology. Mob: +251973169100

Abstract

Abstract

Genetic, gonadal, phenotypic and psychological gender(sex) are the basis for gender assignment to an individual. Derangement in genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors will lead to abnormal development of the external and internal genitalia.  Failure to respond for the endogenous androgen, Androgen Insensitivity Syndrome (AIS) is one of the common causes of genital ambiguity and intersex. In this case report we have presented three girls from a family of seven children visited Tikur Anbassa Specialized Hospital (TASH) with a complaint of primary amenorrhea and diagnosed to have AIS. Their clinical presentation, relevant laboratory and histo-pathologic findings, karyotype and genetic analysis results are summarized. Potential causes and treatment options are discussed.

Author Biographies

Sisay Teklu Waji, Addis Ababa University, School of Medicine Department of Obstetrics and Gynecology Mob: +251 911 227806

Associate Professor obstetrics and Gynecology, Ob-Gy department, Addis Ababa University

Jakob Schneider, Addis Ababa University, School of Medicine, Department of Pathology

Professor of Pathology, addis Ababa University, School of Medicine

Zewdu Terefework, CEO, Molecular Geneticist MRC-ET Molecular Diagnostics

Molecular Genesist (PhD),  MRC-ET Molecular Diagnostics

Benadam Shimeles, Addis Ababa University, School of Medicine, Department of Obstetrics and Gynecology. Mob:+251929112558

Obstetrics and Gynecology Resident, Department of Ob-Gy (MD)

Shemsu Abraham, Addis Ababa University, School of Medicine, Department of Pathology. Mob:+251918295377

Patholgy Rsident, Department of pathology (MD)

Endalk Bonsa, Addis Ababa University, School of Medicine, Department of Obstetrics and Gynecology. Mob: +251973169100

Obstetrics and Gynecology Resident, Department of Ob-Gy, (MD)

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Published

2016-09-28

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