DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20204852

Pure gonadal dysgenesis misdiagnosed as Mayer Rokitansky Kuster Hauser Syndrome: a case report

Preeti B. Singh, Roli Purwar, Pawan Kumar

Abstract


Gonadal dysgenesis is a group of heterogeneous disorders with very rare presentation. The spectrum of disease not only includes primary amenorrhoea but also secondary amenorrhoea. Herein, we are reporting a case of 16-year-old phenotypic female who presented with amenorrhoea with 46, XX karyotype with hypoplastic uterus with absent ovaries (on imaging), with high gonadotropins level and low estradiol. Suspecting Mayer–Rokitansky–Küster–Hauser syndrome (due to hypoplastic uterus) with gonadal dysgenesis she was started on cyclic hormones for development of secondary sexual characters and to prevent bone loss. But, during follow up, after giving estrogen for 8 months, her hypoplastic uterus again starts reappearing with attainment of cyclic menses on estrogen and progesterone withdrawal. We concluded that, in the presence of rudimentary or hypoplastic uterus, straightforward diagnosis of MRKH is to be avoided without seeing peripheral estrogenisation, hormone profile and karyotype analysis.  


Keywords


46-XX, Gonadal dysgenesis, Hypergonadotropic hypogonadism, Hypoplastic uterus, Mayer‑Rokitansky‑Kuster‑Hauser syndrome, Amenorrhoea

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References


Kisu I, Ono A, Iijma T, Katayama M, Iura A, Hirao N. Mayer-Rokitansky-Küster-Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female. J Obstet Gynaecol Res. 2019;45(7):1386-90.

Aatsha PA, Krishan K. Embryology, Sexual Development. In Stat Pearl. 2020 May 30.

Brucker SY, Eisenbeis S, König J, Lamy M, Salker MS, Zeng N, et al. Decidualization is impaired in endometrial stromal cells from uterine rudiments in Mayer-Rokitansky-Küster-Hauser syndrome. Cellul Physiol Biochem. 2017;41(3):1083-97.

Thewjitcharoen Y, Veerasomboonsin V, Nakasatien S, Krittiyawong S, Himathongkam T. Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis. Endocrinol Diabet Metabol Cas Repo. 2019;2019(1).