{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:23Z","timestamp":1753869683534,"version":"3.41.2"},"reference-count":39,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,11]],"date-time":"2020-06-11T00:00:00Z","timestamp":1591833600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010753","name":"National Health Laboratory Service","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010753","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004325","name":"AstraZeneca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004325","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fanconi anemia (FA) is phenotypically diverse, hereditary condition associated with bone marrow failure, multiple physical abnormalities, and an increased susceptibility to the development of malignancies. Less recognized manifestations of FA include endocrine abnormalities. International discourse has highlighted that these abnormalities are widespread among children and adults with FA. To date there has been no systematic study that has evaluated the endocrine abnormalities in a cohort of patients with FA, homozygous for a founder mutation (c.637_643del (p.Tyr213Lysfs*6)) in <jats:italic>FANCG<\/jats:italic>. The objectives of the study were to evaluate endocrine gland function in patients with FA of a single FA genotype, and to determine the frequency and nature of endocrine abnormalities in this group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Cross\u2010sectional, descriptive study of 24 South African patients of African ancestry with FA (homozygous for a <jats:italic>FANCG<\/jats:italic> founder mutation). Outcomes measured included growth, pubertal status, growth hormone axis screening, thyroid gland function, glucose and insulin metabolism and bone age (BA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Endocrine dysfunction was present in 70.8% (17 of 24), including abnormal insulin\u2010like growth factor 1 (IGF\u20101)\/insulin\u2010like growth factor\u2010binding protein 3 (IGFBP\u20103) in 25.0% (6 of 24), insulin resistance in 41.7% (10 of 24), abnormal thyroid function in 16.7% (4 of 24) and short stature in 45.8% (11 of 24). No abnormalities of glucose metabolism were identified. Abnormal pubertal status was seen in three males (12.5%). Abnormal BAs were present in 34.8% (8 of 23).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Endocrine abnormalities occur at a high frequency in patients with FA, homozygous for a <jats:italic>FANCG<\/jats:italic> founder mutation, similar to other FA cohorts. Our data are specific to FA patients with a single genotype, and therefore provide the first genotype\u2010phenotype information on endocrine abnormalities in South African patients, homozygous for a <jats:italic>FANCG<\/jats:italic> founder mutation. Recommendations regarding endocrine screening in this patient subgroup are made, including, but not limited to, baseline testing of thyroid function, fasted insulin and glucose, and IGF\u20101 and IGFBP\u20103.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1351","type":"journal-article","created":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T04:10:35Z","timestamp":1591935035000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Endocrine profiling in patients with Fanconi anemia, homozygous for a <i>FANCG<\/i> founder mutation"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7560-7307","authenticated-orcid":false,"given":"Bronwyn","family":"Dillon","sequence":"first","affiliation":[{"name":"Division of Human Genetics National Health Laboratory Service and School of Pathology Faculty of Health Sciences The University of the Witwatersrand Johannesburg Gauteng South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Candice","family":"Feben","sequence":"additional","affiliation":[{"name":"Division of Human Genetics National Health Laboratory Service and School of Pathology Faculty of Health Sciences The University of the Witwatersrand Johannesburg Gauteng South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Segal","sequence":"additional","affiliation":[{"name":"The University of the Witwatersrand and The Wits University Donald Gordon Medical Centre Johannesburg Gauteng South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"du Plessis","sequence":"additional","affiliation":[{"name":"Paediatric Oncology Unit Universitas Hospital and The University of the Free State Bloemfontein Free State South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Reynders","sequence":"additional","affiliation":[{"name":"Paediatric Haematology and Oncology Unit Steve Biko Academic Hospital and The University of Pretoria Pretoria Gauteng South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalind","family":"Wainwright","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology and Oncology Chris Hani Baragwanath Academic Hospital and The University of the Witwatersrand Johannesburg Gauteng South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet","family":"Poole","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology and Oncology Charlotte Maxeke Johannesburg Academic Hospital and The University of the Witwatersrand Johannesburg Gauteng South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Krause","sequence":"additional","affiliation":[{"name":"Division of Human Genetics National Health Laboratory Service and School of Pathology Faculty of Health Sciences The University of the Witwatersrand Johannesburg Gauteng South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889\u20108529(05)70348\u20100"},{"issue":"1","key":"e_1_2_9_3_1","first-page":"11","article-title":"Standards of medical care in diabetes \u2013 2019 position statement","volume":"37","author":"American Diabetes Association","year":"2019","journal-title":"Diabetes Care"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcp0800459"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.21589"},{"key":"e_1_2_9_6_1","unstructured":"Emmaneul M. &Bokor B.(2019).Tanner stages. 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