{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:07:03Z","timestamp":1791198423589,"version":"4.1.0"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"suppl_1","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":["eur j endocrinol"],"published-print":{"date-parts":[[2006,11]]},"abstract":"<jats:p><jats:italic>Objective<\/jats:italic>: To determine the frequency of rare nucleotide variants in <jats:italic>GNRHR<\/jats:italic> and <jats:italic>GPR54<\/jats:italic> in a large cohort of probands (<jats:italic>n<\/jats:italic> = 166) with normosmic idiopathic hypogonadotropic hypogonadism (nIHH), characterized by mode of inheritance, testicular volume, and presence or absence of endogenous LH pulsations.<\/jats:p>\n      <jats:p><jats:italic>Methods<\/jats:italic>: Whenever possible, probands answered detailed questionnaires, underwent full physical exams, and underwent q 10-min frequent blood sampling for LH. Exons segments for <jats:italic>GNRHR<\/jats:italic> and <jats:italic>GPR54<\/jats:italic> were screened for mutations. Nucleotide changes were identified as rare variants if they occurred at less than 1% frequency in an ethnically matched control population.<\/jats:p>\n      <jats:p><jats:italic>Results<\/jats:italic>: Sixty-two percent of male probands were classified as sporadic, meaning that no other family members had delayed puberty or nIHH. In contrast, 61% of female probands were from familial pedigrees, with either autosomal dominant or autosomal recessive inheritance. Patients displayed a broad spectrum of disease severity based on testicular size and endogenous LH pulsations. Twenty-four rare variants were identified in <jats:italic>GNRHR<\/jats:italic> (within 15 probands) and seven rare variants in <jats:italic>GPR54<\/jats:italic> (within five probands).<\/jats:p>\n      <jats:p><jats:italic>Conclusions<\/jats:italic>: Rare variants in <jats:italic>GNRHR<\/jats:italic> are more common than <jats:italic>GPR54<\/jats:italic> in a nIHH population.<\/jats:p>","DOI":"10.1530\/eje.1.02235","type":"journal-article","created":{"date-parts":[[2006,10,30]],"date-time":"2006-10-30T21:11:07Z","timestamp":1162242667000},"page":"S3-S10","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":60,"title":["Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism"],"prefix":"10.1093","volume":"155","author":[{"given":"Felecia","family":"Cerrato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenna","family":"Shagoury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Kralickova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Dwyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Falardeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Metin","family":"Ozata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Van Vliet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Bouloux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet E","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances J","family":"Hayes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelly","family":"Pitteloud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn A","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrine","family":"Welt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie B","family":"Seminara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"issue":"6","key":"1_16674114","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1056\/NEJM199702063360604","volume":"336","author":"Nachtigall","year":"1997","journal-title":"New England Journal of Medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"issue":"6","key":"2_11186136","doi-asserted-by":"publisher","first-page":"2470","DOI":"10.1210\/jc.86.6.2470","volume":"86","author":"Pitteloud","year":"2001","journal-title":"Journal of Clinical Endocrinology &amp; 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