Delayed and Misdiagnosed Complete Androgen Insensitivity Syndrome Cases in Two Sisters Which its Diagnose is Confirmed with Laparoscopic Gonedectomy
Abstract
Complete androgen insensitivity syndrome (CAIS) is defined as end organ resistance to androgens with XY karyotype. Our aim is to present the diagnosis and treatment of a delayed and misdiagnosed CAIS case and to determine the importance of family history. She was married woman with the complaint of infertility and primary amenorrhea. Patient who has undergone bilateral inguinal hernia operation; cannot be diagnosed with CAIS until the age of 25. When the family history is investigated, it has been learned that two elder sisters menstruate but 17-year-old sister doesn’t menstruate. It has been advised that she should apply to the university hospital, so she was diagnosed with CAIS for her. Teenage girls’ complaint of primary amenorrhea and bilateral inguinal hernia should be evaluated in terms of CAIS and family screening should be performed.
References
- Brinkmann AO, Molecular basis of androgen insensitivity. Mol Cell Endocrinol. 2001; 20; 179:105-9.
- Cheikhelard A, Morel Y, Thibaud E, Lortat-Jacob S, Jaubert F, Polak M et al. Long- term fallow up and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol 2008; 180; 4:1496-1501.
- Grumbach MN, et al. Disorders of sex differentiation. In: Larsen PR, editor. Williams Textbook of Endocrinology. Philadelphia, Saunders, 2003, pp 842-1002
- Hiort O, Birnbaum W, Marshall L, Wünsch L, Werner R, Schröder T et al. Management of disorders of sex development. Nat Rev Endocrinol 2014; 10:520.
- HugesIA, Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab 2006, 20:577-598
- Jorgensen PB, Kjantansdottir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril 2010; 94:105.
- Leslie ND. Haldane was right: de novo mutations in androgen insensitivity syndrome. J Pediatr 1998; 132:917-8.
- Sarpel U, Palmer SK, Dolgin SE. The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement. J Pediatr Surg 2005; 40:133
Abstract
References
- Brinkmann AO, Molecular basis of androgen insensitivity. Mol Cell Endocrinol. 2001; 20; 179:105-9.
- Cheikhelard A, Morel Y, Thibaud E, Lortat-Jacob S, Jaubert F, Polak M et al. Long- term fallow up and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol 2008; 180; 4:1496-1501.
- Grumbach MN, et al. Disorders of sex differentiation. In: Larsen PR, editor. Williams Textbook of Endocrinology. Philadelphia, Saunders, 2003, pp 842-1002
- Hiort O, Birnbaum W, Marshall L, Wünsch L, Werner R, Schröder T et al. Management of disorders of sex development. Nat Rev Endocrinol 2014; 10:520.
- HugesIA, Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab 2006, 20:577-598
- Jorgensen PB, Kjantansdottir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril 2010; 94:105.
- Leslie ND. Haldane was right: de novo mutations in androgen insensitivity syndrome. J Pediatr 1998; 132:917-8.
- Sarpel U, Palmer SK, Dolgin SE. The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement. J Pediatr Surg 2005; 40:133
Details
| Primary Language | English |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case reports |
| Authors | |
| Publication Date | April 27, 2016 |
| Published in Issue | Year 2016 Volume: 2 Issue: 1 |
e-ISSN 2149-7796