ESPE Abstracts

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.

Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history encompassed strabismus, mild-to-severe intellectual disability and recent-onset epilepsy requiring anticonvulsant therapy. Upon examination, she presented with shield chest, slightly dysmorphic features and onychopathy. From an auxological perspective, she showed overt short stature (height -4,25 SDS, WHO), while her puberal stage was B2PH4AH1. Baseline blood test showed findings consistent with primary ovarian failure (FSH 97.4 mUI/ml, LH 16.5 mUI/ml, undetectable oestradiol). The combination of clinical and biochemical findings prompted the prescription of an arrayCGH, that detected two cellular lines, in the setting of a mosaic genotype: 46,XrX (X ring chromosome) and 45,X0, as confirmed by a subsequent karyotype. Accordingly, the patient was diagnosed with TS. A pelvis ultrasound showed streak ovaries, but -unexpectedly- no visible uterus was detected. A pelvis MRI confirmed these findings, while a gynecological evaluation outlined a severely hypoplastic vagina. No anatomical abnormalities involving either the kidneys or the spine were detected. Given the diagnosis of pubertal arrest in the setting of ovarian failure, pubertal induction with progressively increasing doses of beta-oestradiol was undertaken. Despite a progression of secondary sexual features, the sequential sonographic assessment of internal genitalia did not show any signs consistent with oestrogenization and no uterus was detected upon last evaluation, 12 months later.

Discussion: Though the relationship between TS and MRKHS may be regarded as coincidental, the fact that the co-occurrence of the latter with several syndromic conditions (such as Sotos’ syndrome) has been already described may support the hypothesis of a causative association. In addition, while historically deemed as the result of sporadic anomalies involving the embryogenesis, several genes such as KLHL4, LHX1 and WNT4 have recently been implicated in its pathogenesis.

Conclusion: In conclusion, the aim of the present report is to increase the awareness about a possible association between TS and MRKHS, in order to lower the threshold for prescribing MRI when a pelvis US does not detect the uterus in TS patients.