Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia.

OBJECTIVE: To report two consecutive spontaneous pregnancies in a compound heterozygous patient with classic galactosemia and a heterozygous partner, 6 years after ovarian tissue cryopreservation. DESIGN: Case report. SETTING: Tertiary health care center. PATIENT(S): A patient with classic galactosemia and strict adherance to a galactose-free diet. INTERVENTION(S): Right ovariectomy by laparoscopy and cryopreservation of cortical slices; metabolic follow-up. MAIN OUTCOME MEASURE(S): Genotyping, galactose-1-phosphate uridyltransferase (GALT) activity and erythrocyte galactose-1-phosphate determination, histology of ovarian cortex, pregnancy achievement. RESULT(S): Undetectable GALT activity; compound heterozygosity: association of c.563A>G (p.Gln188Arg) and a novel mutation c.982C>T (p.Arg328Cys); rare growing follicles and abnormally low primordial follicles; two uneventful spontaneous pregnancies without need for autografting of the cryopreserved tissue. CONCLUSION(S): The risk for ovarian failure is a frequent concern, but spontaneous pregnancies may occur, even repeatedly, in young patients with galactosemia. Thus, there is a need for more accurate predictive factors to guide the indication for ovarian tissue cryopreservation, the benefits and risks of which have to be balanced through a multidisciplinary approach.

Asymptomatic rectal and bladder endometriosis: a case for robotic-assisted surgery.

OBJECTIVES: To evaluate the feasibility and safety of robot-assisted laparoscopic partial cystectomy for the treatment of rectal and bladder endometriosis. MATERIALS AND METHODS: A 23 year-old female with history of infertility and pelvic pain was found to have a 4 cm bladder mass and rectal nodule on pelvic ultrasonography. Patient denied any other genitourinary symptoms. Cystoscopy and bladder mass biopsy revealed endometriosis. After failure to suppressive hormonal medical therapy a partial cystectomy and resection of a rectal lesion was performed with robotic assistance (da Vinci). The procedure included excision of an ovarian cyst and several peritoneal endometrioid implants. RESULTS: Robotic-assisted (da Vinci) partial cystectomy with concomitant excision of endometrial nodules from the rectum and ovarian cyst was performed in 185 min. The rectal lesion was excised and primary closure of the rectum was performed. Patient had an uneventful postoperative course and hospital stay. Oral intake was started on postoperative day 1 and follow-up imaging revealed no bladder extravasation or fistula formation. The patient became pregnant 2 years later with "in vitro" fertilization procedure. CONCLUSIONS: Robotic-assisted laparoscopic partial cystectomy with excision of rectal nodules for endometriosis can be safely performed.