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  • Taniyama et al reported a

    2024-02-27

    Taniyama et al. reported a female with infertility who had a homozygous T-to-A transversion at nucleotide position g.2472 in exon 3 of the CYP17A1 gene (mutation Y201N) and decreased 17-hydroxylase and 17,20-lyase activities of <33% and <35% of normal, respectively (43). Clinical manifestations of her enzymatic deficiencies included hypertension, absent axillary hair, irregular menses, hypoplastic uterus, and infertility. Upon reviewing literature, Araki et al. found reports of menstruation in 15/19 females with 17OHD, with one patient reporting regular menstrual cycles (36). Incomplete enzymatic blockade might explain menstruating phenotype in these females, as found in patients with the delF53/54 and Y201N mutations. After reviewing the 17OHD literature, we found a single report of pregnancy by Levran et al., which resulted in live birth of triplets after transfer of cryopreserved embryos (44). This pregnancy resulted from treatment of four females with partial 17OHD, diagnosed by hormonal profile but not molecular genetics, who presented with infertility. These females were normotensive with hypomenorrhea and well-developed secondary sexual characteristics. All had undergone extensive fertility treatments with multiple unsuccessful IVF cycles. Upon diagnosis of partial 17OHD, an additional IVF Melphalan was initiated using dexamethasone to control adrenal P production, plus GnRHa, human menopausal gonadotropins, and hCG for controlled ovarian hyperstimulation (COH) during the follicular portion of cycle. Although serum concentrations of E2 were low and those of P were high throughout the cycle despite aggressive therapy, between two and 34 oocytes were aspirated with high fertilization and cleavage rates (≥50% and ≥65%, respectively). Other attempts at fertility therapy in individuals with 17OHD have not resulted in live birth. Rabinovici et al. diagnosed and treated a 30-year-old female with 17-hydroxylase deficiency with IVF (45). Medications included prednisone as an antihypertensive and P lowering agent, GnRHa for ongoing pituitary-ovarian suppression, IM FSH for folliculogenesis, and hCG to induce ovulation. Although plasma E2 concentrations remained undetectable despite exogenous gonadotropin administration, ultrasound revealed increased follicular size consistent with follicular maturation. On cycle day 16 (day 1 being the first day of FSH administration), three oocytes were aspirated, and two progressed to the pronuclear stage after insemination. Both embryos, however, arrested at the in-cleavage stage with seven cells, and no ET occurred. Neuwinger et al. treated a 28-year-old female with 17OHD, diagnosed by clinical symptoms and hormonal profile, with two cycles of COH and IUI followed by a cycle of IVF Melphalan (46). As absence of folliculogenesis was thought to be due to a lack of aromatizable androgens, laparoscopic intraovarian injection of T propionate was administered before exogenous gonadotropins. COH cycles resulted in one to two follicles >18 mm with serum concentrations of E2 between 204 and 253 pg/mL on day 14 of the cycle. After two failed COH cycles, IVF was attempted. In this cycle, vaginal T suppositories were used with high doses of gonadotropins to stimulate folliculogenesis. Despite a relatively low serum concentration of E2 (207 pg/mL), six oocytes were retrieved but appeared markedly abnormal with intracytoplasmic vacuoles and thickened zona pellucida upon examination. No fertilization resulted after insemination. Pellicer et al. reported a 31-year-old female with primary amenorrhea and infertility. The diagnosis of 17OHD was made during an IVF cycle by analyzing the hormonal profile of ovarian follicular fluid and granulosa-luteal cells (47). She underwent ovarian stimulation with gonadotropins, and hCG was given on cycle day 14 with fertilization of 11/19 oocytes and transfer of four embryos. The remaining embryos were cryopreserved, and as no pregnancy resulted, the embryos were thawed. The four surviving embryos were transferred without evidence of implantation.