Endocrine Abstracts

Introduction: Turner syndrome (TS) is a genetic condition, that results from the complete or partial loss of the second X chromosome in phenotypic females. Typically, patients with TS have growth retardation, altered pubertal development and facial dysmorphism. It’s also associated with other comorbidities.

Aim: Here we report a rather rare finding which is the association of TS and Rokitansky-Küster Hauser (RKH) and we discuss the possible ethiopathogenic links between these two congenital conditions.

Case: A 16-year-old girl was referred to the Endocrinology department at the Hedi Chaker hospital in Sfax, Tunisia, for growth retardation and delayed puberty. Sha had no particular familiar nor personal medical history. She was the offspring of a consanguineous couple. On physical examination, she had a short height of 147 cm (-2 standard deviations), a normal weight of 54 kg (10^th percentile). She had dysmorphic features: Pterygium Colli and cubitus valgus. She also had café au lait spots disseminated all over her body. Additionally, she had a primary amenorrhea and pubertal delay as testified by the absence of secondary sexual characteristics at the age of 16. Hormonal evaluation revealed low estradiol (10 pg/ml) associated with high levels of FSH and LH: 107 mui/ml and 31 mui/ml, respectively, confirming thus the diagnosis of primary ovarian insufficiency. The karyotype confirmed our suspicion since it unveiled the presence of X monosmy. A pelvic ultrasound was also performed and since it showed the absence of ovarian structures as well as the absence of uterus, a pelvic MRI was carried out. This latter exam confirmed the absence of ovaries and uterus. However, it showed a normal aspect of vagina and the presence of feminine urethra. These imaging findings are attributable to RKH.

Conclusion: Although rare, RKH and TS can be associated. The coexistence of these two conditions further complicates the management of infertility in patients with TS.