{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T21:45:18Z","timestamp":1776203118736,"version":"3.50.1"},"reference-count":50,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2008,9,1]],"date-time":"2008-09-01T00:00:00Z","timestamp":1220227200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Bone"],"published-print":{"date-parts":[[2008,9]]},"DOI":"10.1016\/j.bone.2008.05.011","type":"journal-article","created":{"date-parts":[[2008,5,24]],"date-time":"2008-05-24T10:29:59Z","timestamp":1211624999000},"page":"628-635","source":"Crossref","is-referenced-by-count":84,"title":["A novel mutation in the human aromatase gene: Insights on the relationship among serum estradiol, longitudinal growth and bone mineral density in an adult man under estrogen replacement treatment"],"prefix":"10.1016","volume":"43","author":[{"given":"Fabio","family":"Lanfranco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Zirilli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Baldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Pignatti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ginevra","family":"Corneli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ezio","family":"Ghigo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianluca","family":"Aimaretti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesare","family":"Carani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Rochira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2008.05.011_bib1","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1172\/JCI27987","article-title":"Estrogen receptors and human disease","volume":"116","author":"Deroo","year":"2006","journal-title":"J Clin Invest"},{"key":"10.1016\/j.bone.2008.05.011_bib2","doi-asserted-by":"crossref","first-page":"1885","DOI":"10.1093\/humrep\/dem091","article-title":"Human fetal testis: source of estrogen and target of estrogen action","volume":"22","author":"Boukari","year":"2007","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bone.2008.05.011_bib3","first-page":"342","article-title":"Aromatase cytochrome P450, the enzyme responsible for estrogen biosynthesis","volume":"15","author":"Simpson","year":"1994","journal-title":"Endocr Rev"},{"key":"10.1016\/j.bone.2008.05.011_bib4","first-page":"414","article-title":"Recognizing rare disorders: aromatase deficiency. Nature Clinical Practice","volume":"3","author":"Jones","year":"2007","journal-title":"Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib5","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1056\/NEJM199707103370204","article-title":"Effect of testosterone and estradiol in a man with aromatase deficiency","volume":"337","author":"Carani","year":"1997","journal-title":"N Engl J Med"},{"key":"10.1016\/j.bone.2008.05.011_bib6","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1056\/NEJM199808273390905","article-title":"Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency","volume":"339","author":"Bilezikian","year":"1998","journal-title":"N Engl J Med"},{"key":"10.1016\/j.bone.2008.05.011_bib7","doi-asserted-by":"crossref","first-page":"5476","DOI":"10.1210\/jc.2002-020498","article-title":"Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene","volume":"87","author":"Herrmann","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib8","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1210\/jc.2003-030313","article-title":"Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment","volume":"89","author":"Maffei","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib9","doi-asserted-by":"crossref","first-page":"6025","DOI":"10.1210\/jc.2004-0602","article-title":"Estrogens are essential for male pubertal periosteal bone expansion","volume":"89","author":"Bouillon","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib10","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1210\/edrv.20.3.0370","article-title":"Estrogen receptor null mice: what have we learned and where will they lead us?","volume":"20","author":"Couse","year":"1999","journal-title":"Endocr Rev"},{"key":"10.1016\/j.bone.2008.05.011_bib11","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1210\/er.22.3.289","article-title":"Estrogen and spermatogenesis","volume":"22","author":"O'Donnell","year":"2001","journal-title":"Endocr Rev"},{"key":"10.1016\/j.bone.2008.05.011_bib12","first-page":"4677","article-title":"Estrogen: consequences and implications of human mutations in synthesis and action","volume":"84","author":"Grumbach","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib13","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1210\/er.2004-0020","article-title":"Estrogen\u2014the good, the bad, and the unexpected","volume":"26","author":"Simpson","year":"2005","journal-title":"Endocr Rev"},{"key":"10.1016\/j.bone.2008.05.011_bib14","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1530\/eje.0.1400111","article-title":"Oestrogen deficiency in men: where are we today?","volume":"140","author":"Faustini-Faustini","year":"1999","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.bone.2008.05.011_bib15","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S0303-7207(02)00092-8","article-title":"Congenital estrogen deficiency in men: a new syndrome with different phenotypes; clinical and therapeutic implications in men","volume":"193","author":"Rochira","year":"2002","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.bone.2008.05.011_bib16","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1530\/eje.1.02088","article-title":"Osteoporosis and male age-related hypogonadism: role of sex steroids on bone (patho)physiology","volume":"154","author":"Rochira","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.bone.2008.05.011_bib17","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.jsbmb.2007.05.029","article-title":"Estrogen and adiposity\u2014utilizing models of aromatase deficiency to explore the relationship","volume":"106","author":"Jones","year":"2007","journal-title":"J Steroid Biochem Mol Biol"},{"key":"10.1016\/j.bone.2008.05.011_bib18","doi-asserted-by":"crossref","first-page":"3324","DOI":"10.1210\/jc.2006-0462","article-title":"In men, peripheral estradiol levels directly reflect the action of estrogens at the hypothalamo-pituitary level to inhibit gonadotropin secretion","volume":"91","author":"Raven","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib19","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1530\/eje.1.02254","article-title":"Hypothalamic-pituitary-gonadal axis in two men with aromatase deficiency: evidence that circulating estrogens are required at the hypothalamic level for the integrity of gonadotropin negative feedback","volume":"155","author":"Rochira","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.bone.2008.05.011_bib20","article-title":"Inhibition of LH Secretion by testosterone in men requires aromatization for its pituitary but not its hypothalamic effects: evidence from the tandem study of normal and gonadotropin-releasing hormone-deficient men","author":"Pitteloud","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib21","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1111\/j.1464-5491.2007.02304.x","article-title":"Oestradiol replacement treatment and glucose homeostasis in two men with congenital aromatase deficiency: evidence for a role of oestradiol and sex steroids unbalance on insulin sensitivity in men","volume":"24","author":"Rochira","year":"2007","journal-title":"Diabet Med"},{"key":"10.1016\/j.bone.2008.05.011_bib22","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1745-7262.2005.00018.x","article-title":"Estrogens in males: what have we learned in the last 10\u00a0years?","volume":"7","author":"Rochira","year":"2005","journal-title":"Asian J Androl"},{"key":"10.1016\/j.bone.2008.05.011_bib23","first-page":"1615","article-title":"Comparison between insulin-induced hypoglycemia and growth hormone (GH)-releasing hormone + arginine as provocative tests for the diagnosis of GH deficiency in adults","volume":"83","author":"Aimaretti","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib24","series-title":"WHO Laboratory Manual for the Examination of Human Semen and Sperm-cervical Mucus Interaction","author":"World Health Organization","year":"1999"},{"key":"10.1016\/j.bone.2008.05.011_bib25","series-title":"The Assessment of Skeletal Maturity and the Prediction of Adult Height (TW2 Method)","author":"Tanner","year":"1983"},{"key":"10.1016\/j.bone.2008.05.011_bib26","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1007\/BF00280883","article-title":"Homeostasis model assessment: insulin resistance and \u03b2-cell function from fasting plasma glucose and insulin concentrations in man","volume":"28","author":"Matthews","year":"1985","journal-title":"Diabetologia"},{"key":"10.1016\/j.bone.2008.05.011_bib27","first-page":"1739","article-title":"Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood","volume":"82","author":"Mullis","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib28","first-page":"4050","article-title":"Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy","volume":"84","author":"Deladoey","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib29","doi-asserted-by":"crossref","first-page":"5127","DOI":"10.1210\/jc.2003-030433","article-title":"Hypothalamic\u2013pituitary\u2013ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene","volume":"88","author":"Belgorosky","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib30","doi-asserted-by":"crossref","first-page":"4781","DOI":"10.1016\/S0021-9258(18)42900-6","article-title":"Biochemical and molecular genetic analyses on placental aromatase (P=45OAROM) deficiency","volume":"267","author":"Harada","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1016\/j.bone.2008.05.011_bib31","article-title":"Clinical findings in an adult man with a novel mutation in the aromatase gene","volume":"vol. 243","author":"Pura","year":"2003"},{"key":"10.1016\/j.bone.2008.05.011_bib32","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1111\/j.1365-2265.2007.02864.x","article-title":"A novel compound heterozygous mutation of the aromatase gene in an adult man: reinforced evidence on the relationship between congenital oestrogen deficiency, adiposity and the metabolic syndrome","volume":"67","author":"Maffei","year":"2007","journal-title":"Clin Endocrinol"},{"key":"10.1016\/j.bone.2008.05.011_bib33","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1210\/jc.2006-1181","article-title":"Variable phenotypes associated with aromatase (CYP19) insufficiency in humans","volume":"92","author":"Lin","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib34","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1111\/j.1365-2265.2007.02948.x","article-title":"The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues","volume":"67","author":"Pepe","year":"2007","journal-title":"Clin Endocrinol"},{"key":"10.1016\/j.bone.2008.05.011_bib35","doi-asserted-by":"crossref","first-page":"2857","DOI":"10.1210\/jcem.87.6.8556","article-title":"Pituitary function in a man with congenital aromatase deficiency: effect of different doses of transdermal E2 on basal and stimulated pituitary hormones","volume":"87","author":"Rochira","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib36","doi-asserted-by":"crossref","first-page":"6871","DOI":"10.1073\/pnas.121180498","article-title":"Effects of estrogen on growth plate senescence and epiphyseal fusion","volume":"98","author":"Weise","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.bone.2008.05.011_bib37","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1210\/jcem-61-5-896","article-title":"Short term, low dose estradiol accelerates ulnar growth in boys","volume":"61","author":"Caruso-Nicoletti","year":"1985","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib38","first-page":"443","article-title":"Pubertal growth: physiology and pathophysiology","volume":"42","author":"Cutler","year":"1986","journal-title":"Recent Prog Horm Res"},{"key":"10.1016\/j.bone.2008.05.011_bib39","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1210\/jc.2007-1559","article-title":"Anastrazole increases predicted adult height of short adolescent males treated with growth hormone: a randomized, placebo-controlled, multicenter trial for one to three years","volume":"93","author":"Mauras","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib40","doi-asserted-by":"crossref","first-page":"354","DOI":"10.7326\/0003-4819-106-3-","article-title":"Osteoporosis in men with idiopathic hypogonadotropic hypogonadism","volume":"106","author":"Finkelstein","year":"1987","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.bone.2008.05.011_bib41","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1016\/j.steroids.2007.05.003","article-title":"Superiority of gas chromatography\/tandem mass spectrometry assay (GC\/MS\/MS) for estradiol for monitoring of aromatase inhibitor therapy","volume":"72","author":"Santen","year":"2007","journal-title":"Steroids"},{"key":"10.1016\/j.bone.2008.05.011_bib42","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/S0303-7207(01)00446-4","article-title":"Role of estrogen on bone in the human male: insights from the natural models of congenital estrogen deficiency","volume":"178","author":"Rochira","year":"2001","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.bone.2008.05.011_bib43","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1210\/jcem.87.4.8417","article-title":"Clinical review 144: estrogen and the male skeleton","volume":"87","author":"Khosla","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib44","doi-asserted-by":"crossref","first-page":"1841","DOI":"10.1210\/jcem.85.5.6583","article-title":"Estrogen replacement therapy in a man with congenital aromatase deficiency: effects of different doses of transdermal estradiol on bone mineral density and hormonal parameters","volume":"85","author":"Rochira","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib45","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1055\/s-2005-861292","article-title":"Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency","volume":"37","author":"Herrmann","year":"2005","journal-title":"Horm Metab Res"},{"key":"10.1016\/j.bone.2008.05.011_bib46","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1016\/j.bone.2007.01.022","article-title":"Skeletal effects of long-term estrogen and testosterone replacement treatment in a man with congenital aromatase deficiency: evidences of a priming effect of estrogen for sex steroids action on bone","volume":"40","author":"Rochira","year":"2007","journal-title":"Bone"},{"key":"10.1016\/j.bone.2008.05.011_bib47","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1046\/j.1365-2265.2001.01227.x","article-title":"Clinical implications and management of oestrogen deficiency in the man","volume":"54","author":"Balestrieri","year":"2001","journal-title":"Clin Endocrinol"},{"key":"10.1016\/j.bone.2008.05.011_bib48","doi-asserted-by":"crossref","first-page":"4002","DOI":"10.1210\/jc.2003-030603","article-title":"The apparent paradox of tall stature with hypopituitarism: new insights from an old story","volume":"88","author":"Faustini-Fustini","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2008.05.011_bib49","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/s002400100180","article-title":"Early development of the gubernaculum and cremaster sac in estrogen receptor knockout mice","volume":"29","author":"Bartlett","year":"2001","journal-title":"Urol Res"},{"key":"10.1016\/j.bone.2008.05.011_bib50","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1097\/MED.0b013e328121aad2","article-title":"Therapeutic uses of aromatase inhibitors in men","volume":"14","author":"de Ronde","year":"2007","journal-title":"Curr Opin Endocrinol Diabetes Obes"}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328208002433?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328208002433?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,9,11]],"date-time":"2021-09-11T04:39:00Z","timestamp":1631335140000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328208002433"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9]]},"references-count":50,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["S8756328208002433"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2008.05.011","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2008,9]]}}}