{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:57:13Z","timestamp":1791115033451,"version":"4.1.0"},"reference-count":28,"publisher":"The Endocrine Society","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,12,1]]},"abstract":"<jats:p>We report three boys with adrenal hypoplasia congenita (AHC) and additional findings that represent a new syndrome, IMAGe: Intrauterine growth retardation, Metaphyseal dysplasia, AHC, and Genital anomalies. Each presented shortly after birth with growth retardation and severe adrenal insufficiency. Each of the three patients had mild dysmorphic features, bilateral cryptorchidism, a small penis, and hypogonadotropic hypogonadism. Skeletal surveys revealed metaphyseal dysplasia in all three and epiphyseal dysplasia in two. The patients had documented or suspected hypercalciuria and\/or hypercalcemia, resulting in nephrocalcinosis in one and in prenatal liver and spleen calcifications in another. AHC presents most often either as an isolated abnormality, caused by mutations in the DAX1 gene, or as part of an Xp21 contiguous gene syndrome, caused by a deletion of the Duchenne muscular dystrophy, glycerol kinase, and DAX1 genes. All three patients with the IMAGe association had normal creatine kinase levels and no evidence of glycerol kinase deficiency. Sequence analysis of DNA from these patients revealed no mutation in the DAX1- or steroidogenic factor-1-coding sequences, nor was a deletion of DAX1 detected. Identification of the molecular basis of the IMAGe association will give new insight into the pathogenesis of this syndromic relationship involving bone, adrenal cortical, and pituitary development.<\/jats:p>","DOI":"10.1210\/jcem.84.12.6186","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:03:55Z","timestamp":1389200635000},"page":"4335-4340","source":"Crossref","is-referenced-by-count":89,"title":["IMAGe, a New Clinical Association of Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies"],"prefix":"10.1210","volume":"84","author":[{"given":"Eric","family":"Vilain","sequence":"first","affiliation":[{"name":"Departments of Human Genetics (E.V.), Los Angeles, California 90095"},{"name":"Pediatrics (E.V., E.R.B.M.), University of California School of Medicine, Los Angeles, California 90095"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[{"name":"Service de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital Necker-Enfants Malades (M.L.M., P.M.), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudine","family":"Lecointre","sequence":"additional","affiliation":[{"name":"Service de Pe\u0301diatrie, Ho\u0302pital Charles Nicolle (C.L.), Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Desangles","sequence":"additional","affiliation":[{"name":"Service de Biologie, Ho\u0302pital Val-de-Gra\u0302ce (F.D.), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark A.","family":"Kay","sequence":"additional","affiliation":[{"name":"the Department of Pediatrics and Genetics, Stanford University Medical School (M.A.K.), Stanford, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Maroteaux","sequence":"additional","affiliation":[{"name":"Service de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital Necker-Enfants Malades (M.L.M., P.M.), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward R. 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deficiency.","volume":"33","author":"Seltzer","year":"1985","journal-title":"Biochem Med"},{"key":"2020071623110330500_R5","first-page":"655","article-title":"Congenital idiopathic adrenal hypoplasia.","volume":"41","author":"Laverty","year":"1973","journal-title":"Obstet Gynecol"},{"key":"2020071623110330500_R6","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/S0022-3476(75)80978-4","article-title":"Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia.","volume":"86","author":"Prader","year":"1975","journal-title":"J Pediatr"},{"key":"2020071623110330500_R7","first-page":"1117","article-title":"Congenital adrenal hypoplasia and hypogonadotropic hypogonadism.","volume":"131","author":"Golden","year":"1977","journal-title":"Am J Dis Child"},{"key":"2020071623110330500_R8","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1136\/bmj.2.6079.98","article-title":"Gonadotrophin deficiency and adrenocortical insufficiency in children: a new syndrome.","volume":"2","author":"Kelly","year":"1977","journal-title":"Br Med J"},{"key":"2020071623110330500_R9","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/S0140-6736(82)90921-7","article-title":"Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.","volume":"2","author":"Bartley","year":"1982","journal-title":"Lancet"},{"key":"2020071623110330500_R10","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/372672a0","article-title":"Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.","volume":"372","author":"Muscatelli","year":"1994","journal-title":"Nature"},{"key":"2020071623110330500_R11","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/372635a0","article-title":"An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.","volume":"372","author":"Zanaria","year":"1994","journal-title":"Nature"},{"key":"2020071623110330500_R12","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1001\/jama.1995.03530040052040","article-title":"Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.","volume":"274","author":"Guo","year":"1995","journal-title":"JAMA"},{"key":"2020071623110330500_R13","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/BF00201663","article-title":"SRVX, a sex reversing locus in Xp21.2-p22.11.","volume":"93","author":"Arn","year":"1994","journal-title":"Hum Genet"},{"key":"2020071623110330500_R14","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/ng0894-497","article-title":"A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.","volume":"7","author":"Bardoni","year":"1994","journal-title":"Nat Genet"},{"key":"2020071623110330500_R15","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1038\/ng0496-404","article-title":"Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function.","volume":"12","author":"Swain","year":"1996","journal-title":"Nat Genet"},{"key":"2020071623110330500_R16","first-page":"1261","article-title":"Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development.","volume":"10","author":"Ikeda","year":"1996","journal-title":"Mol Endocrinol"},{"key":"2020071623110330500_R17","first-page":"2481","article-title":"Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.","volume":"81","author":"Guo","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071623110330500_R18","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1086\/301782","article-title":"DAX1 mutations map to putative structural domains in a deduced three-dimensional model.","volume":"62","author":"Zhang","year":"1998","journal-title":"Am J Hum Genet"},{"key":"2020071623110330500_R19","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/S0022-2836(75)80083-0","article-title":"Detection of specific sequences among DNA fragments separated by gel electrophoresis.","volume":"98","year":"1975","journal-title":"J Mol Biol"},{"key":"2020071623110330500_R20","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/S0022-3476(97)70162-8","article-title":"Urinary phosphate\/creatinine, calcium\/creatinine, and magnesium\/creatinine ratios in a healthy pediatric population.","volume":"131","author":"Matos","year":"1997","journal-title":"J Pediatr"},{"key":"2020071623110330500_R21","first-page":"323","article-title":"Coal-black hyperpigmentation at birth in a child with congenital adrenal hypoplasia. J Am Acad.","volume":"33","author":"Jones","year":"1995","journal-title":"Dermatol"},{"key":"2020071623110330500_R22","first-page":"110","article-title":"Congenital adrenal hypoplasia in association with growth hormone deficiency, developmental delay, partial androgen resistance, unusual facies, and skeletal abnormalities.","volume":"4","author":"Blethen","year":"1990","journal-title":"Dysmorph Clin Genet"},{"key":"2020071623110330500_R23"},{"key":"2020071623110330500_R24","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1677\/jme.0.0170139","article-title":"Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.","volume":"17","author":"Wong","year":"1996","journal-title":"J Mol Endocrinol"},{"key":"2020071623110330500_R25","doi-asserted-by":"crossref","first-page":"517","DOI":"10.3109\/07435809509030469","article-title":"A cell-specific nuclear receptor plays essential roles in adrenal and gonadal development.","volume":"21","author":"Luo","year":"1995","journal-title":"Endocr Res"},{"key":"2020071623110330500_R26","first-page":"744","article-title":"Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.","volume":"141","author":"Wise","year":"1987","journal-title":"Am J Dis Child"},{"key":"2020071623110330500_R27","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1126\/science.7701349","article-title":"A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.","volume":"268","author":"Schipani","year":"1995","journal-title":"Science"},{"key":"2020071623110330500_R28","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1007\/BF01957529","article-title":"Calcium metabolism in the Jansen type of metaphyseal dysplasia.","volume":"152","author":"Kruse","year":"1993","journal-title":"Eur J Pediatr"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/84\/12\/4335\/9216253\/jcem4335.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/84\/12\/4335\/9216253\/jcem4335.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T11:56:23Z","timestamp":1594986983000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/84\/12\/4335\/2864496"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,12,1]]},"references-count":28,"journal-issue":{"issue":"12","published-print":{"date-parts":[[1999,12,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jcem.84.12.6186","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,12,1]]}}}