RESUMEN
We present the case of a patient with female sex assignment at birth whose parents consulted with a pediatrician when the child was 12 years old, indicating that despite female sex assignment, she felt that she (henceforth "he") had a male gender identity and was gynephilic. Medical examination revealed a 46XY karyotype, a primary amenorrhea and an appropriate testosterone increase after HCG stimulation test. The patient was diagnosed then with a 46,XY disorder of sex development with androgen insensitivity syndrome, but then he missed subsequent appointments. At the age of 24, he resumed medical follow-up to reaffirm his male gender identity through sex reassignment surgery. His physical examination showed a Tanner stage III-IV breast development, vulva, clitoris, normal-sized vagina, absence of uterus and ovaries on transvaginal ultrasound, bilateral cryptorchidism on abdominal-pelvic MRI and osteoporosis on bone densitometry. The results of the blood tests were LH 24.5 mIU/mL [normal range, 1.7-8.6 mIU/mL for men] and testosterone 8.8 nmol/L [8.7-33 nmol/L]; conversely, FSH, estradiol, progesterone, and prolactin levels were normal. The molecular genetic analysis revealed an androgen receptor gene mutation associated with complete androgen insensitivity syndrome. At present, the patient has undergone bilateral orchiectomy and has initiated treatment with topical testosterone and bisphosphonates. We have yet to evaluate the effects and decide the best therapy taking into account that he has a male gender identity but complete androgen insensitivity syndrome.
Asunto(s)
Síndrome de Resistencia Androgénica , Disforia de Género , Síndrome de Resistencia Androgénica/diagnóstico , Síndrome de Resistencia Androgénica/genética , Niño , Femenino , Identidad de Género , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Masculino , TestosteronaRESUMEN
A 36-year-old woman was referred for the evaluation of refractory arterial hypertension with vasculorenal profile. Abdominal multislice computed tomography angiography (MSCT-angiography) was performed for further evaluation. Bilateral renal artery involvement was demonstrated with aneurysms, stenotic segments, and a string-of-beads-appearance in the right renal artery. We discuss the occurrence of fibromuscular dysplasia as a cause of refractory hypertension in young women and the increasing importance of MSCT studies for its diagnosis.