Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 1 , Pages 84-86, March 2008

A Rare Case of Rudimentary Uterus With Absence of Both Ovaries and 46,XX Normal Karyotype Without Mosaicism

Department of Obstetrics and Gynecology, Gulhane Military Medical Academy, Ankara, Turkey

Accepted 2 October 2007.

Article Outline

Summary 

Objective

We report an 18-year-old patient with bilateral ovarian agenesis, rudimentary uterus and normal fallopian tubes, and with normal 46,XX karyotype (without mosaicism).

Case Report

The patient was admitted to our clinic with primary amenorrhea. Secondary sexual characteristics (thelarche and pubarche) were both Tanner classification stage 1. With the help of vaginoscopy, vaginal depth was measured without distorting the hymenal ring and was found to be 8 cm. The laboratory findings were as follows: follicle-stimulating hormone 85 IU/L, luteinizing hormone 40IU/L, and estradiol 14pg/dL. Genetic investigation revealed a 46,XX karyotype without any mosaicism. Diagnostic laparoscopy was performed. During laparoscopic pelvic exploration, a rudimentary uterus without ovaries and normal bilateral fallopian tubes were observed. Bone mineral densitometry measurements were in the normal range. The patient was given oral contraceptives for hormone replacement.

Conclusion

If gonadal agenesis is thought to be the cause of primary amenorrhea in patients with defective secondary sexual characteristics, we believe that laparoscopic evaluation is the gold standard in diagnosis.

Key Words:  diagnosis , follow-up , laparoscopy , ovarian agenesis , rudimentary uterus , treatment

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References 

  1. Check JH , Weisberg M , Laeger J . Sexual infantilism accompanied by congenital absence of the uterus and vagina: case report . Am J Obstet Gynecol . 1983;145:633–634
  2. Karam KS , Salti I , Hajj SN . Congenital absence of the uterus . Obstet Gynecol . 1977;50:531–535
  3. Mutchinick OM , Morales JJ , Zenteno JC , del Castillo CF . A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype . Fertil Steril . 2005;83:201–204
  4. Pittock ST , Babovic-Vuksanovic D , Lteif A . Mayer-RokitanskyKuster-Hauser anomaly and its associated malformations . Am J Med Genet A . 2005;135:314–316
  5. Voutilainen R . Differentiation of the fetal gonad . Horm Res . 1992;38(Suppl 2):66–71
  6. Bechtold S , Dalla Pozza R , Schmidt H , Bonfig W , Schwarz HP . Pubertal height gain in Ullrich-Turner syndrome . J Pediatr Endocrinol Metab . 2006;19:987–993

PII: S1028-4559(08)60060-1

doi:10.1016/S1028-4559(08)60060-1

Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 1 , Pages 84-86, March 2008

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