title: Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report.
abstract: Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH). Phenotypes may vary, and puberty may be absent in affected individuals. To date, only two pregnancies have been described in 46,XX CLAH patients with StAR mutations; these patients exhibited ovarian steroidogenesis along with spontaneous puberty and menarche and normal menses. The patient described here presented with CLAH caused by the homozygous (unreported, 1 bp) deletion c.719del in the StAR gene, which was diagnosed after acute adrenal insufficiency when the patient was 10 days old. The patient did not undergo spontaneous puberty, so puberty was induced by HRT when the patient was 13 years old. At the age of 25 years, the patient was referred to our reproductive unit because she desired to conceive. An initial cycle of clomiphene, stimulation produced follicular growth with two mature follicles measuring 18 and 15 mm, respectively, but the plasma oestradiol levels remained low (18 pg/ml) and the endometrium was thin (3 mm). Pregnancy was finally achieved after ovarian stimulation, IVF and transfer of frozen-thawed embryos after endometrial preparation with HRT. A normal female child was delivered following a 40 weeks' uneventful pregnancy. We therefore report the first IVF pregnancy achieved in a 46,XX CLAH patient homozygous for a StAR mutation, with inadequate ovarian steroidogenesis and no spontaneous puberty.
authors.affiliation: Aix-Marseille Université, CNRS, CRN2M UMR 7286, 13344 cedex 15, Marseille, France.|APHM, Hôpital Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, 13385 cedex 15, Marseille, France.
authors.forename: Frédérique
authors.initials: F
authors.lastname: Albarel
authors.affiliation: Pôle Femmes-Parents-Enfants, AP-HM La Conception, 147 bd Baille, 13005 Marseille, France.|Aix Marseille Université, CNRS, IRD, Avignon Université, IMBE UMR 7263, 13397, Marseille, France.
authors.forename: Jeanne
authors.initials: J
authors.lastname: Perrin
authors.affiliation: Pôle Femmes-Parents-Enfants, AP-HM La Conception, 147 bd Baille, 13005 Marseille, France.
authors.forename: Margaux
authors.initials: M
authors.lastname: Jegaden
authors.affiliation: Laboratoire d'Endocrinologie Moléculaire et Maladies Rares, Hospices Civils de Lyon, 69677 Cedex Lyon, France.|Université Claude Bernard Lyon 1, 69677 Cedex Lyon, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Roucher-Boulez
authors.affiliation: Faculté de Médecine secteur Nord, Aix-Marseille Université, UMR 7286 CNRS, 51, Boulevard Pierre Dramard-CS80011, 13344 Marseille Cedex 15, France.|APHM Service de pédiatrie multidisciplinaire CHU Timone Enfants, 13385 Marseille Cedex 05, France.
authors.forename: Rachel
authors.initials: R
authors.lastname: Reynaud
authors.affiliation: Aix-Marseille Université, CNRS, CRN2M UMR 7286, 13344 cedex 15, Marseille, France.|APHM, Hôpital Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, 13385 cedex 15, Marseille, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Brue
authors.affiliation: Aix-Marseille Université, CNRS, CRN2M UMR 7286, 13344 cedex 15, Marseille, France blandine.courbiere@ap-hm.fr.|APHM, Hôpital Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, Centre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY, 13385 cedex 15, Marseille, France.|Pôle Femmes-Parents-Enfants, AP-HM La Conception, 147 bd Baille, 13005 Marseille, France.|Aix Marseille Université, CNRS, IRD, Avignon Université, IMBE UMR 7263, 13397, Marseille, France.
authors.forename: Blandine
authors.initials: B
authors.lastname: Courbiere
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy / Q000235:genetics*; D000328:Adult; D058490:Disorder of Sex Development, 46,XY / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005307:Fertilization in Vitro; D005938:Glucocorticoids / Q000627:therapeutic use; D020249:Hormone Replacement Therapy; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D010750:Phosphoproteins / Q000235:genetics; D011247:Pregnancy; D011256:Pregnancy Outcome; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D005938:Glucocorticoids; D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein
keywords: StAR gene; adrenal failure; congenital lipoid adrenal hyperplasia; fertility; pregnancy