Successful Delivery in 17,20-Lyase Deficiency.

CONTEXT: Pregnancy achievement in an infertile patient with 17,20-lyase deficiency. OBJECTIVE: To study and describe the achievement of successful pregnancy and delivery in a patient with 17,20-lyase deficiency. METHOD: Controlled ovarian stimulation (COS) and in vitro fertilization (IVF), cryopreservation of embryos and frozen-thawed embryo transfer (ET). Controlled ovarian stimulation, follicular aspiration egg retrieval, IVF, embryo cryopreservation, thawed ET. A 24-year-old, infertile patient with 17,20-lase deficiency. RESULTS: Isolated 17,20-lyase deficiency is caused by mutations in the CYP17A1 gene (coding for cytochrome P450c17), POR (coding for cytochrome P450 oxidoreductase), and CYB5A (coding for microsomal cytochrome b5) genes. A 24-year-old patient with 17,20-lyase deficiency had undergone IVF with gonadotropin releasing hormone agonist (GnRHa) protocol, prednisone, and gonadotropins. After the human chorionic gonadotropin (hCG) trigger, 37 oocytes were retrieved, 25 ova fertilized, and 17 embryos cryopreserved. After menstrual bleeding, the endometrium was stimulated with oral estradiol, under progesterone suppression with long acting GnRHa and prednisone. When endometrial width of 8.5 mm was reached, vaginal progesterone was added, while gradually decreasing prednisone. On the fourth day of progesterone supplement, 2 thawed embryos were transferred. After 11 days of human menopausal gonadotropin (hMG), estradiol concentration moderately increased, but progesterone levels remained high; therefore, no fresh ET was performed. Twelve days after thawed ET, hCG was positive, and 7 days later, an intrauterine gestational sac was detected, but the pregnancy ended in missed abortion. After 2 months, another frozen-thawed embryo transfer (FET) was performed, generating a normal gestation, which ended in successful delivery. CONCLUSION: Pregnancy can be achieved in patients with 17,20-lyase deficiency, by IVF, freezing all embryos, and ET in a subsequent cycle, while suppressing endogenous ovarian progesterone with a GnRHa and adrenal suppression with high-dose glucocorticoids.

Three-dimensional scan of the uterine cavity of infertile women before assisted reproductive technology use.

The primary objective was to assess the utility of routine 3-dimensional (3D) ultrasound in the evaluation of infertile women and to estimate the prevalence of uterine anomalies before the use of assisted reproductive technology (ART), using the European Society of Human Reproduction and Embryology and the European Society for Gynaecological Endoscopy classification system. A second objective was to assess the effect of uterine anomalies on the pregnancy rate in patients who underwent assisted reproductive techniques.We retrospectively studied 668 patients treated in the Department Obstetrics Gynecology and Neonatology "Sf Ioan" Clinical Emergency Hospital and in the Department of Medical and Surgical Specialties, Faculty of Medicine "'Transilvania" University of Brasov between July 2016 and February 2017 for subfertility. Patients were examined using 2-dimensional (2D) and 3-dimensional (3D) transvaginal ultrasound. Müllerian duct anomalies were present in 6.13% of patients, with the most common anomaly being a dysmorphic uterus (class U1c in 42.68% of patients), 17 patients (20.73%) with incompletely septate uterus (class U2a), 12 patients (14.63%) with a completely septate uterus (classU2b), 8 patients (9.75%) with a partly bicorporeal uterus (classU3a), and 6 patients (7.31%) with a completely bicorporeal uterus (class U3b). Only 1 (1.21%) patient had an aplastic uterus without a rudimentary cavity (class U5b). The pregnancy rate in the presence of uterine anomalies was 55% and the pregnancy rate in control group patients was 39.8%. The incidence of pregnancy in the group with uterine anomalies was statistically similar with the control group of normal uterus (P < .11). For ongoing pregnancy rate and live birth rate, our data indicated a slightly elevated rate for both of those indexes in the anomalies group. The incidence of miscarriage in the presence of uterine anomalies was 24% and 6.7% in the control group, which is statistically significant (P = .05).3D ultrasound evaluation of the uterus should be considered before ART in order to make an accurate diagnosis of the uterine congenital anomaly and improve ART results.

Does pituitary suppression affect live birth rate in women with congenital hypogonadotrophic hypogonadism undergoing intra-cytoplasmic sperm injection? A multicenter cohort study.

In this retrospective multicenter cohort study, women with congenital hypogonadotrophic hypogonadism (CHH) (n = 57) who underwent intra-cytoplasmic sperm injection in-between 2010-2014 were compared to age-matched controls with tubal factor infertility (n = 114) to assess ovarian stimulation cycle and pregnancy outcomes. Live birth rates (LBRs) per started cycle were 31.6 and 24.6% in CHH and controls groups, respectively (p = 0.36). Comparable success rates were also confirmed with the logistic regression analysis (OR: 1.44, 95% CI: 0.78-2.67, p = 0.24). Of the 57 women with CHH, 19 were stimulated with the gonadotropin-releasing hormone (GnRH) antagonist protocol, 13 with the long-GnRH-agonist protocol. Pituitary suppression (PS) was not employed in the remaining 25 cases. Compared to women with PS, women without PS had significantly higher embryo implantation rates (21.6 versus 52.6%, p = 0.03). Although there was a trend favoring no PS, LBRs (25.0 versus 40.0%, p = 0.26) per cycle were short of statistical significance. LBRs per cycle (57.1 versus 31.2%, p = 0.11) and miscarriage rates (11.1 versus 16.7%, p = 0.75) were similar between CHH women who were given estrogen + progesterone and progesterone alone to support the luteal phase. In conclusion, the optimal stimulation protocol appears to be exogenous gonadotropin stimulation alone, without PS, and progesterone-only luteal phase support in CHH patients.

Imaging of female infertility: a pictorial guide to the hysterosalpingography, ultrasonography, and magnetic resonance imaging findings of the congenital and acquired causes of female infertility.

Hysterosalpingography is the gold standard in assessing the patency of the fallopian tubes, which is among the most common causes of female factor infertility, making this technique the most frequent first-choice imaging modality in the assessment of female infertility. Ultrasonography and magnetic resonance imaging are typically used for evaluation of indeterminate or complicated cases of female infertility and presurgical planning. Imaging also plays a role in the detection of the secondary causes of ovarian factor infertility, including endometriosis and polycystic ovarian syndrome.

Selecting barrenness: the use of preimplantation genetic diagnosis by congenitally infertile women to select for infertility.

Congenitally infertile women such as those with Turner syndrome or Mayer Rokitansky-Kuster-Hauser syndrome have available the technologies of oocyte harvesting, cryropreservation, in-vitro fertilization, and gestational surrogacy in order to have genetically related offspring. Since congenital infertility results in a variety of experiences that impacts on nearly every aspect of a person's life, in the future it is possible that these women might desire a congenitally infertile child through the use of preimplantation genetic diagnosis so as to share this common bond. While infertility results in a relatively normal quality of life, it is morally wrong to necessitate the future use of infertility services with its variable success rate on a child. Also, whereas the woman has fundamental reproductive autonomy, she lacks the substantive autonomy regarding the specific characteristics of her child. Finally, the infertile community does exhibit a strong presence, but it lacks characteristics that define it as a culture.

Clinical diagnosis of uterine didelphia in Ayrshire heifer.

A 24-month-old Ayrshire heifer was referred because of infertility. A clinical diagnosis of uterus didelphys was established after a complete genital examination before the animal was culled from the herd.

Congenital interruption of the ampullary portion of the fallopian tube.

We present a rare case of a congenital isolated missing segment of the fallopian tube, including hysterosalpingographic and laparoscopic images. We conclude that when this occurs without concomitant müllerian anomalies, the mechanism of development would not be expected to be associated with an increase in renal abnormalities.