Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2019 Mar-Apr;57(216):119-122.
doi: 10.31729/jnma.4287.

Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report

Santosh Kumar Jha  1 , Rosina Manandhar  2 , Veena Rani Shrivastava  2
Affiliations
Case Reports

Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report

Santosh Kumar Jha et al. JNMA J Nepal Med Assoc. 2019 Mar-Apr.

Abstract

Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer‑Rokitansky‑Kuster‑Hauser syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46 XX karyotype. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental. We report a case of a 24-years old woman who presented with primary amenorrhea. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46,XX. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. There were no other morphological malformations. Keywords: Gonadal dysgenesis; Mayer Rokitansky Kuster Hauser syndrome; Mullerian agenesis; primary amenorrhea; 46,XX.

PubMed Disclaimer

Figures

Figure 1A
Figure 1A. Breast Tanner's score II.
Figure 1B
Figure 1B. Improved Breast Tanner stage after receiving 3 months treatment.
Figure 2.
Figure 2.. Ultrasound Examination- No Uterus identifieid behind the bladder.
Figure 3.
Figure 3.. Magnetic resonance imaging examination sagital plane cut showing absence of uterus and ovaries.
Figure 4.
Figure 4.. Normal vagina end blindly superiorly with dimpling.
Figure 5.
Figure 5.. Karyotyping.
See this image and copyright information in PMC

References

    1. Bousfiha N, Errarhay S, Saadi H, Ouldim K, Bouchikhi C, Banani A. Gonadal dysgenesis 46, XX associated with Mayer-Rokitansky-Kuster-Hauser syndrome: one case report. Obstet and gynecol int. 2010. 2010. p. 847370. - PMC - PubMed
    1. Kebaili S, Chaabane K, Mnif MF, Kamoun M, Kacem FH, Guesmi N, et al. Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: a case report and review of literature. Indian J Endocrinol metab. 2013 May;17(3):505–8. doi: 10.4103/2230-8210.111663. - DOI - PMC - PubMed
    1. Manne S, Veeraabhinav CH, Jetti M, Himabindu Y, Donthu K, Badireddy M. A rare case of 46, XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. J Hum Reprod Sci. 2016 Oct;Dec;9(4):263–266. - PMC - PubMed
    1. Shah VN, Ganatra PJ, Parikh R, Kamdar P, Baxi S, Shah N. Coexistence of gonadal dysgenesis and Mayer-RokitanskyKuster-Hauser syndrome in 46, XX female: A case report and review of literature. Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):5274–7. doi: 10.4103/2230-8210.119605. - DOI - PMC - PubMed
    1. Gorgojo JJ, Almodóvar F, López E, Donnay S. Gonadal agenesis 46, XX associated with the atypical form of Rokitansky syndrome. Fertil Steril. 2002 Jan 1;77(1):185–7. doi: 10.1016/s0015-0282(01)02943-0. - DOI - PubMed

Publication types

MeSH terms

Supplementary concepts

LinkOut - more resources