{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T21:37:00Z","timestamp":1793223420789,"version":"4.5.0"},"reference-count":42,"publisher":"The Endocrine Society","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Background: Fanconi anemia (FA) is an inherited disorder with chromosomal instability, bone marrow failure, developmental defects, and a predisposition to cancer. Systematic and comprehensive endocrine function data in FA are limited.<\/jats:p><jats:p>Objective: We studied a cohort of FA patients enrolled in the National Cancer Institute\u2019s Inherited Bone Marrow Failure Syndrome study.<\/jats:p><jats:p>Study Design and Patients: Retrospective review of the medical records of 45 FA patients (ages 2\u201349 yr), 23 of whom were intensively evaluated at the National Institutes of Health. Anthropometric measurements, GH, IGF-I, IGF binding protein-3, thyroid, gonadal hormone, lipid levels, glucose homeostasis, brain imaging, and bone mineral density were obtained in these latter patients.<\/jats:p><jats:p>Results: Endocrine abnormalities were present in 73%, including short stature and\/or GH deficiency (51%), hypothyroidism (37%), midline brain abnormalities (17%) (these patients had very short stature and 60% were GH-deficient); abnormal glucose\/insulin metabolism (39%); obesity (27%); dyslipidemia (55%); and metabolic syndrome (21%). Patients with any endocrine abnormality were shorter than those without; only GH deficiency correlated significantly with short stature (P = 0.01). In addition, 65% of peripubertal or postpubertal patients had gonadal dysfunction. Ninety-two percent of the patients 18 yr or older had osteopenia or osteoporosis.<\/jats:p><jats:p>Conclusions: Endocrine dysfunction is widespread in children and adults with FA; we expand the FA phenotype to include early onset osteopenia\/osteoporosis and lipid abnormalities. Despite the reputation of FA as a progressive, lethal disease, proper management of the full spectrum of FA-related endocrinopathy offers major opportunities to reduce morbidity and improve quality of life. Our findings emphasize the need for comprehensive endocrine and metabolic evaluation and long-term follow-up in patients with FA.<\/jats:p>","DOI":"10.1210\/jc.2007-0135","type":"journal-article","created":{"date-parts":[[2007,4,11]],"date-time":"2007-04-11T02:43:39Z","timestamp":1176259419000},"page":"2624-2631","source":"Crossref","is-referenced-by-count":128,"title":["Endocrine Abnormalities in Patients with Fanconi Anemia"],"prefix":"10.1210","volume":"92","author":[{"given":"Neelam","family":"Giri","sequence":"first","affiliation":[{"name":"Clinical Genetics Branch (N.G., B.P.A.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland 20852"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalia L.","family":"Batista","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology Branch (D.L.B., C.A.S.), National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanche P.","family":"Alter","sequence":"additional","affiliation":[{"name":"Clinical Genetics Branch (N.G., B.P.A.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland 20852"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantine A.","family":"Stratakis","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology Branch (D.L.B., C.A.S.), National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071614253604500_R1","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1038\/ng1458","article-title":"X-linked inheritance of Fanconi anemia complementation group B.","volume":"36","author":"Meetei","year":"2004","journal-title":"Nat Genet"},{"key":"2020071614253604500_R2","first-page":"280","article-title":"Inherited bone marrow failure syndromes","author":"Alter","year":"2003","journal-title":"In: Nathan DG, Orkin SH, Look AT, Gensburg D, eds. 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