Successful Live Birth in a Woman With 17 alpha-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer

Author(s):Show less -

de Mello Bianchi, Paulo Homem ^[1] ; Carvalho Araujo Gouveia, Gabriela Romanenghi Fanti ^[1] ; Frade Costa, Elaine M. ^[2] ; Domenice, Sorahia ; Martin, Regina M. ^[2] ; de Carvalho, Luciane Carneiro ^[2] ; Pelaes, Tatiana ^[2] ; Inacio, Marlene ^[2] ; Codarin, Rodrigo Rocha ^[3] ; Sator de Faria, Maria Beatriz ^[3] ; Vieira Francisco, Rossana Pulcineli ^[3] ; Baracat, Edmund Chada ^[1] ; Serafini, Paulo Cesar ^[1] ; Mendonca, Berenice B. ^[2]

Affiliation

^[1] Univ Sao Paulo, Fac Med, Ctr Reprod Humana, Disciplina Ginecol, Av Dr Eneas de Carvalho Aguiar 255 ICHC, 10 Andar, BR-05403000 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Fac Med, Lab Hormonios & Genet Mol, Disciplina Endocrinol, BR-05403000 Sao Paulo - Brazil

^[3] Univ Sao Paulo, Fac Med, Disciplina Obstet, BR-05403000 Sao Paulo - Brazil

• Document type: Journal article
• Source: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; v. 101, n. 2, p. 345-348, FEB 2016.
• Web of Science Citations: 10

Abstract

Context: Congenital adrenal hyperplasia (CAH) dueto 17 alpha-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. Objective: To describe the first successful singleton live birth in a female with CAH due to 17 alpha-hydroxylase deficiency. Case Description: A 26-year-old Brazilian woman with CAH associated with 17 alpha-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 were < 1 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. Conclusion: 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. (AU)

• FAPESP's process: 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine
• Grantee: Berenice Bilharinho de Mendonça
• Support Opportunities: Research Projects - Thematic Grants