{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T05:10:07Z","timestamp":1694927407012},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1985,7,12]],"date-time":"1985-07-12T00:00:00Z","timestamp":489974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1986,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the results of a study of a rare form of true precocious puberty in a family with a history of the condition. Only the male members manifest the trait, whereas it appears to be carried by both males and females. Routine urinary steroid analysis rapidly eliminated most of the classical enzyme defects associated with premature sexual maturation. Further investigation of urinary steroid extracts using gas chromatography and gas chromatography\u2010mass spectrometry revealed essentially normal prepubertal androgen values for the proband A at 4 years of age, and for his affected and carrier relatives when compared with healthy age\u2010matched individuals. While his plasma gonadotropin levels were in the prepubertal range, his plasma testosterone value was significantly elevated with values just below the normal range for an adult male.<\/jats:p><jats:p>This is the fourteenth reported family with a vertical pattern of familial sexual precocity, but the first to have a steroid profile. Analysis suggests sex\u2010limited autosomal dominance with a greater than 90% penetrance. The elevated plasma testosterone concentration, prepubertal plasma gonadotropin concentration, minimal histopathologic evidence of gametogenesis and only moderate increase in testicular volume over the five\u2010year course of follow\u2010up support a diagnosis of the recently described condition of familial gonadotropin independent sexual precocity. The gas chromatography\u2010mass spectrometry urinary profiling shows elevated cortisol output but otherwise normal adrenal function.<\/jats:p>","DOI":"10.1007\/bf01799451","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:51:43Z","timestamp":1119372703000},"page":"147-155","source":"Crossref","is-referenced-by-count":2,"title":["The role of steroid metabolic profiling as an aid in the diagnosis of familial precocious puberty, a subgroup of true precocious puberty"],"prefix":"10.1002","volume":"9","author":[{"given":"A. W.","family":"Pike","sequence":"first","affiliation":[{"name":"Departments of Pediatrics, Pharmacology and Mass Spectrometry Eacility University of Colorado Health Sciences Center  Denver Colorado 80262 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. L.","family":"Klein","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Pharmacology and Mass Spectrometry Eacility University of Colorado Health Sciences Center  Denver Colorado 80262 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. W.","family":"Gotlin","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Pharmacology and Mass Spectrometry Eacility University of Colorado Health Sciences Center  Denver Colorado 80262 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. V.","family":"Fennessey","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Pharmacology and Mass Spectrometry Eacility University of Colorado Health Sciences Center  Denver Colorado 80262 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1985,7,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1677\/joe.0.0460547"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-22-11-1095"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-595X(75)80036-3"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-595X(75)80045-4"},{"key":"e_1_2_1_6_1","first-page":"179","article-title":"Precocious sexual and somatic development in boys due to constitutional and endocrine factors","volume":"81","author":"Engstrom W. W.","year":"1951","journal-title":"Am. J. Dis. Child."},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-595X(75)80033-8"},{"key":"e_1_2_1_8_1","first-page":"277","volume-title":"Adrenal and Endocrine Tumors of Children","author":"Holcombe J. J.","year":"1983"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-40-3-458"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1542\/peds.9.6.682","article-title":"Hereditary sexual precocity","volume":"9","author":"Jacobsen A. W.","year":"1952","journal-title":"Pediatrics"},{"key":"e_1_2_1_11_1","volume-title":"Sexual precocity","author":"Jolly H.","year":"1955"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1956.02060020140006"},{"key":"e_1_2_1_13_1","first-page":"986","article-title":"Puberte precoce familial (Familial early puberty)","volume":"13","author":"Keiser D. P.","year":"1956","journal-title":"Arch. Fr. Pediatr."},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(63)90179-7"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105476"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(15)33402-5"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1542\/peds.13.2.174","article-title":"Familial constitutional precocious puberty in a boy three years of age","volume":"13","author":"Mortimer E. A.","year":"1954","journal-title":"Pediatrics"},{"key":"e_1_2_1_18_1","volume-title":"Pediatric and Adolescent Endocrinology","author":"New M. I.","year":"1984"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)80867-1"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80588-2"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/endo-21-3-404"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-52-2-271"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1158\/ajc.1936.144"},{"key":"e_1_2_1_24_1","first-page":"561","article-title":"Extraordinary precocity in development of male sexual organs and muscular system of child four years old","volume":"24","author":"Stone R. K.","year":"1852","journal-title":"Am. J. Med. Sci."},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1080\/00032717208066084"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02268590"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(52)80001-0"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03348487"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198501103120201"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799451","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799451","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T21:50:23Z","timestamp":1694901023000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799451"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,7,12]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1986,6]]}},"alternative-id":["10.1007\/BF01799451"],"URL":"https:\/\/doi.org\/10.1007\/bf01799451","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,7,12]]}}}