{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T23:01:12Z","timestamp":1772578872886,"version":"3.50.1"},"reference-count":23,"publisher":"The Endocrine Society","issue":"10","funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Sex hormone\u2013binding globulin (SHBG) in the blood is a major determinant of bioactivity for key sex steroids such as testosterone and estradiol. Low serum levels of SHBG have been associated with obesity, polycystic ovaries, and metabolic syndrome, and other states associated with hyperandrogenemia. A 9-year, 6-month-old girl presented with a history of peripheral precocious puberty and aggressive behavior. The patient\u2019s SHBG level was remarkably low for her age, at less than 5 nmol\/L (reference range for a girl with a bone age of 10 years, 73 nmol\/L [SEM\u2005=\u200510]) [1]. On genetic and protein analysis, the patient was found to have a homozygous missense potentially pathogenic variant in the SHBG gene (c.554C&amp;gt;T, p.P185L); her parents were asymptomatic heterozygote carriers. Laboratory investigations supported the possible involvement of this genetic alteration in the patient\u2019s phenotype. Various analyses of this variant support its pathogenicity, although the exact mechanism remains unclear. In conclusion, we present a genetic SHBG variant in the homozygote state that may have been associated with gonadotropin-independent precocious puberty in a young girl.<\/jats:p>","DOI":"10.1210\/jendso\/bvab125","type":"journal-article","created":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T10:39:35Z","timestamp":1626691175000},"source":"Crossref","is-referenced-by-count":4,"title":["Homozygous <i>SHBG<\/i> Variant (<i>rs6258<\/i>) Linked to Gonadotropin-Independent Precocious Puberty in a Young Girl"],"prefix":"10.1210","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6233-3682","authenticated-orcid":false,"given":"Victoria C","family":"Andriessen","sequence":"first","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1109, 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of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1109, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0632-6365","authenticated-orcid":false,"given":"Angela","family":"Delaney","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1109, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6829-6205","authenticated-orcid":false,"given":"Fady","family":"Hannah-Shmouni","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1109, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4639-7336","authenticated-orcid":false,"given":"Geoffrey 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