Obstet Gynecol Sci.  2017 Jul;60(4):378-382. 10.5468/ogs.2017.60.4.378.

Female with 46, XY karyotype

• Jung EJ
• Im DH
• Park YH
• Byun JM
• Kim YN
• Jeong DH
• Sung MS
• Kim KT
• An HJ
• Jung SJ
• Lee KB

• KMID: 2386281
• DOI: http://doi.org/10.5468/ogs.2017.60.4.378

Abstract

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.

Keyword

46, XY female; Androgen-insensitivity syndrome; Gonadal dysgenesis

MeSH Terms

46, XY Disorders of Sex Development
Androgen-Insensitivity Syndrome
Disorders of Sex Development
Female*
Gonadal Dysgenesis
Gonadal Dysgenesis, 46,XY
Gonads
Humans
Karyotype*
Male

Figure

• 

  Fig. 1 Clinical findings of a patient with XY pure gonadal dysgenesis. (A) Normal external female genitalia with an intact hymen. (B) Small uterus (asterisk). (C) Left streak ovary (arrow) and fallopian tube (arrowhead). (D) Right streak ovary (arrow) and fallopian tube (arrowhead). (E) Left streak ovary and fallopian tube transected with LigaSure. (F) Right streak ovary and fallopian tube transected with LigaSure. (G) Microscopic finding of a streak ovary in a patient with XY pure gonadal dysgenesis, showing simple cuboidal lining of modified mesothelial cells in the superficial epithelium of the streak ovary. The underlining stroma is composed of spindled cells arranged in parallel or a storiform pattern, which are characteristic findings of ovaria stroma (H&E, ×100). (H) Gross finding of inguinal testes in a patient with complete androgen insensitivity syndrome. (I) Microscopic finding of inguinal testes in a patient with complete androgen insensitivity syndrome, showing immature testicular tubules with a thick hyalinized basement membrane (H&E, ×100).

• 

  Fig. 2 A schematic diagram of different pathways involved in sexual development of patients presenting with XY pure gonadal dysgenesis and complete androgen insensitivity syndrome (CAIS). SF1, steroidogenic factor 1; WT1, wilms' tumor 1; SRY, sex-determining region Y; WNT4, wingless-type MMTV integration site family member 4; FOXL2, forkhead transcription factor L2; DAX1, dosage sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1; RSPO1, R-spondin 1; SOX9, SRY-related HMG box 9; AMH, antimüllerian hormone; T, testosterone; DHT, dihydrotestosterone; E2, estradiol; AR, androgen receptor.

Reference

1. Michala L, Creighton SM. The XY female. Best Pract Res Clin Obstet Gynaecol. 2010; 24:139–148.

2. Jorgensen PB, Kjartansdottir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril. 2010; 94:105–113.

3. Oakes MB, Eyvazzadeh AD, Quint E, Smith YR. Complete androgen insensitivity syndrome: a review. J Pediatr Adolesc Gynecol. 2008; 21:305–310.

4. Deeb A, Hughes IA. Inguinal hernia in female infants: a cue to check the sex chromosomes? BJU Int. 2005; 96:401–403.

5. Cools M, Stoop H, Kersemaekers AM, Drop SL, Wolffenbuttel KP, Bourguignon JP, et al. Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. J Clin Endocrinol Metab. 2006; 91:2404–2413.

6. Plante BJ, Fritz MA. A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis. Fertil Steril. 2008; 90:2015.

7. Deans R, Creighton SM, Liao LM, Conway GS. Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. Clin Endocrinol (Oxf). 2012; 76:894–898.

8. Baker VL, Schillings WJ. Amenorrhea. In : Berek JS, Novak E, editors. Berek & Novak's gynecology. 15th ed. Philadelphia (PA): Lippincott Williams & Wilkins;2012. p. 1035–1062.

9. Ismail-Pratt IS, Bikoo M, Liao LM, Conway GS, Creighton SM. Normalization of the vagina by dilator treatment alone in complete androgen insensitivity syndrome and Mayer-Rokitansky-Kuster-Hauser syndrome. Hum Reprod. 2007; 22:2020–2024.