ODP427 The Concomitant Existence of Turner Syndrome and Non-classic Congenital Adrenal Hyperplasia

Abstract

Abstract Background Turner syndrome and Congenital adrenal hyperplasia are distinct examples of disorders of sexual development. Because they share common clinical features, their coexistence is difficult to diagnose.1 Currently, only ten cases have been reported in the literature.2 Clinical Case: A 54-year-old, born and raised as a female, consulted a gynecologist because of ambiguous genitalia. Her late presentation was due to reluctance of medical care. During her teenage years, she had cyclic hypogastric cramps but never had menstrual bleeding. In her late 20s, she noted virilizing features such as receding hairline, hirsutism and deepening of voice. None of her parents and siblings presented the same features. She had a short stature (height: 147.32 cm), wide spaced nipples with absent breast bud and shortened 4th metatarsals. Genital examination showed a pair of labia without palpable mass and testes, and a prominent phallic structure measuring 3-4 cm (Prader Stage V). Hormonal assays revealed low normal FSH (4.58, >3. 03 mIU/mL, low LH (0.48, >1.8 mIU/mL), elevated testosterone (4.7, n<0.75 ng/mL) and progesterone (14.47, <1.4 ng/mL), and normal estradiol (66, n: 23-139 pg/mL). Tumor markers such as ß-hCG, ɑ-fetoprotein, LDH and CA-125, electrolyte analysis and thyroid function test showed no abnormalities. Both pelvic ultrasonography and abdominal MRI demonstrated a large abdominopelvic mass (14.7×17.1×8.4 cm) with no identifiable normal looking uterus, ovaries, or testes. She underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy. Histopathologic analysis of the specimen revealed submucous and intramural leiomyoma uteri, atrophic endometrium without abnormality on both ovaries and fallopian tubes. Karyotype analysis indicated 45×[2] / 46, XX [48], Mosaic 45,×/ 46 XX consistent with Turner's syndrome. Because virilization is not a typical feature, further evaluation using 17-hydroxyprogesterone was performed. The result yielded elevated basal (235, n<6 nmol/L) and postsynacthen result (60 minutes) (241, n<30 nmol/L), hence, the diagnosis of non-classic congenital adrenal hyperplasia was established. Conclusion The individual incidence of Turner syndrome and non-classic congenital adrenal hyperplasia is not uncommon, but their coexistence is rare. In the absence of Y chromosome in Turner syndrome, presence of virilization should warrant investigation for congenital adrenal hyperplasia. Presentation: No date and time listed