{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T22:07:44Z","timestamp":1789596464531,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,3,26]],"date-time":"2013-03-26T00:00:00Z","timestamp":1364256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2013,10]]},"abstract":"Summary<\/jats:title>Introduction<\/jats:title>Alstr\u00f6m syndrome (ALMS<\/jats:styled-content>) is a rare autosomal recessive monogenic disease included in an emerging class of genetic disorders called \u2018ciliopathies\u2019 and is likely to impact the central nervous system as well as metabolic and endocrine function. Individuals with ALMS<\/jats:styled-content> present clinical features resembling a growth hormone deficiency (GHD<\/jats:styled-content>) condition, but thus far no study has specifically investigated this aspect in a large population.<\/jats:p><\/jats:sec>Material and Methods<\/jats:title>Twenty\u2010three patients with ALMS<\/jats:styled-content> (age, 1\u201352\u00a0years; 11 males, 12 females) were evaluated for anthropometric parameters (growth charts and standard deviation score (SDS<\/jats:styled-content>) of height, weight, BMI<\/jats:styled-content>), GH<\/jats:styled-content> secretion by growth hormone\u2013releasing hormone + arginine test (GHRH<\/jats:styled-content>\u2010arg), bone age, and hypothalamic\u2013pituitary magnetic resonance imaging (MRI<\/jats:styled-content>). A group of 17 healthy subjects served as controls in the GH<\/jats:styled-content> secretion study. Longitudinal retrospective and prospective data were utilized.<\/jats:p><\/jats:sec>Results<\/jats:title>The length\u2010for\u2010age measurements from birth to 36\u00a0months showed normal growth with most values falling within \u22120\u00b767 SDS<\/jats:styled-content> to +1\u00b728 SDS<\/jats:styled-content>. A progressive decrease in stature\u2010for\u2010age was observed after 10\u00a0years of age, with a low final height in almost all ALMS<\/jats:styled-content> subjects (>16\u201320\u00a0years; mean SDS<\/jats:styled-content>, \u22122\u00b722\u00a0\u00b1\u00a01\u00b716). The subset of 12 patients with ALMS<\/jats:styled-content> tested for GHRH<\/jats:styled-content>\u2010arg showed a significantly shorter stature than age\u2010matched controls (154\u00b77\u00a0\u00b1\u00a010\u00b76\u00a0cm vs<\/jats:italic> 162\u00b79\u00a0\u00b1\u00a04\u00b78\u00a0cm, P<\/jats:italic>\u00a0=\u00a00\u00b7009) and a mild increase in BMI<\/jats:styled-content> (Kg\/m2<\/jats:sup>) (27\u00b78\u00a0\u00b1\u00a04\u00b78 vs<\/jats:italic> 24\u00b71\u00a0\u00b1\u00a02\u00b75, P<\/jats:italic>\u00a0=\u00a00\u00b7007). Peak GH<\/jats:styled-content> after GHRH<\/jats:styled-content>\u2010arg was significantly lower in patients with ALMS<\/jats:styled-content> in comparison with controls (11\u00b79\u00a0\u00b1\u00a06\u00b79\u00a0\u03bcg\/l vs<\/jats:italic> 86\u00b71\u00a0\u00b1\u00a033\u00b72\u00a0\u03bcg\/l, P<\/jats:italic>\u00a0<\u00a00\u00b70001). Severe GHD<\/jats:styled-content> was evident biochemically in 50% of patients with ALMS<\/jats:styled-content>. The 10 adult ALMS<\/jats:styled-content> patients with GHD<\/jats:styled-content> showed a reduced height in comparison with those without GHD<\/jats:styled-content> (149\u00b77\u00a0\u00b1\u00a06\u00b72\u00a0cm vs<\/jats:italic> 161\u00b79\u00a0\u00b1 9\u00b72\u00a0cm, P<\/jats:italic>\u00a0=\u00a00\u00b704). MRI<\/jats:styled-content>s of the diencephalic and pituitary regions were normal in 11 of 12 patients. Bone age was advanced in 43% of cases.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Our study shows that 50% of nonobese ALMS<\/jats:styled-content> patients have an inadequate GH<\/jats:styled-content> reserve to GHRH<\/jats:styled-content>\u2010arg and may be functionally GH<\/jats:styled-content> deficient. The short stature reported in ALMS<\/jats:styled-content> may be at least partially influenced by impairment of GH<\/jats:styled-content> secretion.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12180","type":"journal-article","created":{"date-parts":[[2013,2,27]],"date-time":"2013-02-27T15:05:43Z","timestamp":1361977543000},"page":"529-536","source":"Crossref","is-referenced-by-count":25,"title":["Alstr\u00f6m syndrome is associated with short stature and reduced GH<\/scp> reserve"],"prefix":"10.1111","volume":"79","author":[{"given":"S.","family":"Romano","sequence":"first","affiliation":[{"name":"Department of Medicine University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Maffei","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Bettini","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Milan","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Favaretto","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Gardiman","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. D.","family":"Marshall","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory Bar Harbor ME USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. A.","family":"Greggio","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. B.","family":"Pozzan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Ospedale dell'Angelo Mestre\u2010Venice Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. B.","family":"Collin","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory Bar Harbor ME USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. K.","family":"Naggert","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory Bar Harbor ME USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Bronson","sequence":"additional","affiliation":[{"name":"Department of Pathology Harvard University Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Vettor","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<150::AID-AJMG9>3.0.CO;2-Y"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.165.6.675"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201933"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.2174\/138920211795677912"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng867"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng874"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02166"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi235"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.54.5.1581"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0030008"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115610"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-006-6180-x"},{"key":"e_1_2_6_14_1","first-page":"97","article-title":"Growth hormone deficiency in two siblings with Alstr\u00f6m syndrome","volume":"147","author":"Alter C.A.","year":"1993","journal-title":"American Journal of Diseases of Children"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.7.e8"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000074248"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02721.x"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-07-0631"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.81.9.3323"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1330305"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1994.tb03793.x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-979000"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-195909000-00030"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2005-0494"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(98)97033-6"},{"key":"e_1_2_6_26_1","first-page":"98","article-title":"Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet\u2010Biedl phenotype","volume":"2","author":"Catrinoiu D.","year":"2009","journal-title":"Journal of medicine and life"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.11.3990"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.19.2.0329"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)90181-3"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.2.480"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1340352"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-5448.2011.00789.x"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1210\/edrv-15-1-80"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0026-0495(96)90240-1"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.03.023"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0019081"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcen.12180","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.12180","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T17:46:56Z","timestamp":1696355216000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cen.12180"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,26]]},"references-count":35,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1111\/cen.12180"],"URL":"https:\/\/doi.org\/10.1111\/cen.12180","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,26]]}}}