Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer
| Autor: | Regina Matsunaga Martin, Sorahia Domenice, Rodrigo Rocha Codarin, P.H.M. Bianchi, Luciane Carneiro de Carvalho, Tatiana S. Pelaes, Berenice B. Mendonca, Marlene Inácio, Elaine Maria Frade Costa, Gabriela Romanenghi Fanti Carvalho Araujo Gouveia, Rossana Pulcineli Vieira Francisco, Paulo C. Serafini, Edmund Chada Baracat, Maria Beatriz Sator de Faria |
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| Rok vydání: | 2015 |
| Předmět: |
Infertility
Adult medicine.medical_specialty Endocrinology Diabetes and Metabolism medicine.medical_treatment Clinical Biochemistry 030209 endocrinology & metabolism Context (language use) Fertilization in Vitro Biology Biochemistry Dexamethasone Gonadotropin-Releasing Hormone 03 medical and health sciences Endometrium 0302 clinical medicine Endocrinology Pregnancy Internal medicine Adrenal Glands Freezing medicine Humans Congenital adrenal hyperplasia Progesterone Gynecology 030219 obstetrics & reproductive medicine In vitro fertilisation Adrenal Hyperplasia Congenital Biochemistry (medical) Ovary Pregnancy Outcome Steroid 17-alpha-Hydroxylase medicine.disease Embryo Transfer female genital diseases and pregnancy complications Embryo transfer CYP17A1 Mutation Female Live birth |
| Zdroj: | The Journal of clinical endocrinology and metabolism. 101(2) |
| ISSN: | 1945-7197 |
| Popis: | Congenital adrenal hyperplasia (CAH) due to 17α-hydroxylase deficiency in 46,XX patients is characterized by primary amenorrhea, absent or incomplete sexual maturation, infertility, low serum levels of estradiol, and elevated progesterone (P). There were no previous reports of singleton live births from such women.To describe the first successful singleton live birth in a female with CAH due to 17α-hydroxylase deficiency.A 26-year-old Brazilian woman with CAH associated with 17α-hydroxylase deficiency due to the compound heterozygote mutation (p.W406R/P428L) in the CYP17A1 gene expressed the desire to conceive. In vitro fertilization (IVF) was recommended due to the complexity of the disorder. The first attempt of treatment failed despite the production of viable embryos. At the second IVF attempt, all viable embryos were frozen due to inadequate endometrial development associated with prematurely elevated serum P during ovarian stimulation. Subsequently, a long-acting GnRH agonist and oral dexamethasone were used to lower ovarian and adrenal P overproduction. Once serum levels of P were1 ng/mL, endometrial preparation with estradiol valerate and frozen-thawed embryo transfer were performed, resulting in a singleton pregnancy. Estradiol supplementation was completely suspended by 14 weeks of gestation. She delivered at 30 weeks and 4 days due to acute fetal distress. The puerperium was uneventful; the newborn was discharged in good conditions 5 weeks after birth.A successful live birth was achieved in a woman with 17-hydroxylase deficiency through IVF, cryopreservation of all embryos, and frozen-thawed embryo transfer after adequate endometrial preparation. |
| Databáze: | OpenAIRE |
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