title: Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  To describe the first successful singleton live birth in a female with CAH due to 17α-hydroxylase deficiency.
  
  
  METHODS
  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 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Paulo Homem de Mello
authors.initials: PH
authors.lastname: Bianchi
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Gabriela Romanenghi Fanti Carvalho Araujo
authors.initials: GR
authors.lastname: Gouveia
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Elaine M Frade
authors.initials: EM
authors.lastname: Costa
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Sorahia
authors.initials: S
authors.lastname: Domenice
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Regina M
authors.initials: RM
authors.lastname: Martin
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Luciane Carneiro
authors.initials: LC
authors.lastname: de Carvalho
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Pelaes
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Marlene
authors.initials: M
authors.lastname: Inacio
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Rodrigo Rocha
authors.initials: RR
authors.lastname: Codarin
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Maria Beatriz
authors.initials: MB
authors.lastname: Sator de Faria
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Rossana Pulcineli Vieira
authors.initials: RP
authors.lastname: Francisco
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Edmund Chada
authors.initials: EC
authors.lastname: Baracat
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Paulo César
authors.initials: PC
authors.lastname: Serafini
authors.affiliation: Centro de Reprodução Humana da Disciplina de Ginecologia (P.H.M.B., G.R.F.C.A.G., E.C.B., P.C.S.), Laboratorio de Hormonios e Genetica Molecular da Disciplina de Endocrinologia (E.M.F.C., R.M.M., L.C.C., T.P., M.I., B.B.M.), and Disciplina de Obstetrícia (R.R.C., M.B.S.F., R.P.V.F.), da Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, Brazil.
authors.forename: Berenice B
authors.initials: BB
authors.lastname: Mendonca
mesh_terms: D000311:Adrenal Glands / Q000187:drug effects / Q000378:metabolism; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D000328:Adult; D003907:Dexamethasone / Q000494:pharmacology; D004624:Embryo Transfer / Q000379:methods*; D004717:Endometrium / Q000254:growth & development; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods*; D005615:Freezing; D007987:Gonadotropin-Releasing Hormone / Q000819:agonists; D006801:Humans; D009154:Mutation / Q000235:genetics; D010053:Ovary / Q000187:drug effects / Q000378:metabolism; D011247:Pregnancy; D011256:Pregnancy Outcome; D011374:Progesterone / Q000097:blood; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: D007987:Gonadotropin-Releasing Hormone; D011374:Progesterone; D003907:Dexamethasone; C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase