{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T23:10:12Z","timestamp":1699830612356},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9284,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1980,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The second case of virilism as a late manifestation of Bardet\u2010Biedl syndrome (BBS) is described, with endocrine and histological evaluation. Both cases manifested ovulatory cycles and developed virilism in adulthood. Elevated plasma testosterone and 17\u2010OH\u2010progesterone were not suppressed by dexamethasone but were suppressed by medroxyprogesterone acetate. Peripheral and ovarian venous blood obtained at the time of surgery demonstrated a marked gradient for testosterone in both ovaries and for progesterone in the ovary bearing the corpus luteum. Histological evaluation of the ovaries demonstrated bilateral ovarian stromal hyperplasia with focal hyperthecosis. Bilateral ovariectomy resulted in complete correction of the endocrine abnormality, although the established hirsutism remains a mark of previous androgen excess.<\/jats:p>","DOI":"10.1002\/ajmg.1320070306","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:38:41Z","timestamp":1118511521000},"page":"279-292","source":"Crossref","is-referenced-by-count":10,"title":["Virilism as a late manifestation in the Bardet\u2010Biedl syndrome"],"prefix":"10.1002","volume":"7","author":[{"suffix":"Jr.","given":"Ray V.","family":"Haning","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian H.","family":"Carlson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enid F.","family":"Gilbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sander S.","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence E.","family":"Karp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"1","article-title":"Investigations cliniques et g\u00e9n\u00e9tiques sur le syndrome de Bardet\u2010Biedl en Suisse","volume":"18","author":"Ammann F","year":"1970","journal-title":"J Genet Hum Suppl"},{"key":"e_1_2_1_3_2","volume-title":"On Hereditary Digital Anomalies, part III. The Treasury of Human Inheritance","author":"Bell J","year":"1958"},{"key":"e_1_2_1_4_2","first-page":"93","article-title":"Obesity, hypogenitalism mental retardation, polydactyly, and retinal pigmentation: The Laurence\u2010Moon\u2010Biedl syndrome","volume":"4","author":"Cockayne EA","year":"1935","journal-title":"Q J Med"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1148\/109.3.659"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.30.11.1077"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/path.1700930106"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030354022"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80580-4"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.52.12.968"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9610(71)90454-5"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(77)90025-7"},{"key":"e_1_2_1_13_2","first-page":"687","article-title":"Laurence\u2010Moon syndrome: Evaluation of endocrinological function and phenotypic concordance and report of cases","volume":"41","author":"Dekaban AS","year":"1972","journal-title":"Med Ann DC"},{"key":"e_1_2_1_14_2","first-page":"332","article-title":"Laurence\u2010Moon\u2010Bardet\u2010Biedl syndrome","volume":"8","author":"Siegler AM","year":"1956","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_15_2","first-page":"715","volume-title":"Methods of Hormone Radioimmunoassay","author":"Auletta FJ","year":"1979"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0039-128X(72)90119-5"},{"key":"e_1_2_1_17_2","first-page":"279","volume-title":"Statistical Methods","author":"Snedecor GW","year":"1967"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-45-5-953"},{"key":"e_1_2_1_19_2","first-page":"701","volume-title":"Methods of Hormone Radioimmunoassay","author":"Orczyk GP","year":"1979"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-13-8-911"},{"key":"e_1_2_1_21_2","first-page":"67","volume-title":"Methods in Hormone Research","author":"Dorfman RI","year":"1962"},{"key":"e_1_2_1_22_2","first-page":"395","article-title":"Effect of dexamethasone on serum cortisol and androgen levels in hirsute patients","volume":"47","author":"Abraham GE","year":"1976","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(77)90560-9"},{"key":"e_1_2_1_24_2","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1016\/S0015-0282(16)42970-5","article-title":"Medroxyprogesterone acetate for the evaluation of hypertestosteronism in hirsute women","volume":"12","author":"Ettinger B","year":"1977","journal-title":"Fertil Steril"},{"key":"e_1_2_1_25_2","first-page":"623","article-title":"Virilization with diffuse involvement of ovarian androgen secreting cells","volume":"50","author":"Katz M","year":"1977","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4757-6143-6"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(73)90071-9"},{"key":"e_1_2_1_28_2","first-page":"1192","article-title":"Case records of the Massachusetts General Hospital: Case 49\u20131972","volume":"287","author":"Castleman B","year":"1972","journal-title":"N Engl J Med"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(71)90550-3"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.3109\/00016347909154919"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(75)90081-2"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-4731(75)90348-9"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-46-6-911"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1097\/00003081-197803000-00004"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197603182941204"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(77)90052-7"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-39-2-340"},{"key":"e_1_2_1_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80276-4"},{"key":"e_1_2_1_39_2","first-page":"1","article-title":"Androgen and estrogen formation in women with ovarian hyperthecosis","volume":"51","author":"Aiman J","year":"1978","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_40_2","first-page":"581","article-title":"Peripheral and ovarian steroids in ovarian hyperthecosis","volume":"47","author":"Abraham GE","year":"1976","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_41_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-46-2-295"},{"key":"e_1_2_1_42_2","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/S0015-0282(16)44063-X","article-title":"The polycystic ovary: Hirsutism and 17 \u03b1\u2010hydroxyprogesterone","volume":"6","author":"Sojo\u2010Aranda I","year":"1979","journal-title":"Fertil Steril"},{"key":"e_1_2_1_43_2","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/0002-9378(79)90796-8","article-title":"Endocrine studies of normal and polycystic ovarian tissues in vitro","volume":"134","author":"Wilson EA","year":"1979","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_1_44_2","first-page":"191","article-title":"Pituitary and gonadal function in patients with the Laurence\u2010Moon\u2010Biedl syndrome","volume":"84","author":"Perez\u2010Palacios G","year":"1977","journal-title":"Acta Endocrinol"},{"key":"e_1_2_1_45_2","first-page":"435","article-title":"An autopsy of Laurence\u2010Moon\u2010Biedl syndrome with pituitary eosinophilic adenoma","volume":"21","author":"Hiraki S","year":"1971","journal-title":"Acta Pathol Jpn"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320070306","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320070306","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T22:57:32Z","timestamp":1699829852000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320070306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,1]]},"references-count":44,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1980,1]]}},"alternative-id":["10.1002\/ajmg.1320070306"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320070306","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,1]]}}}