{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T08:12:00Z","timestamp":1783930320541,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T00:00:00Z","timestamp":1557100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T00:00:00Z","timestamp":1557100800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      21\u2010hydroxylase deficiency (21\u2010OHD) is caused due to\n                      <jats:italic>CYP21A2<\/jats:italic>\n                      gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms. In males, genital features such as micropenis and cryptorchidism are found in 48% of CS. There are no reports of patients with combined 21\u2010OHD and CS; therefore, it is unknown whether the external genitalia shows penile enlargement or micropenis with\/without cryptorchidism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case<\/jats:title>\n                    <jats:p>A boy, born at 37\u00a0weeks and 5\u00a0days of gestational age with no consanguineous marriage, was admitted to our hospital due to congenital cleft lip, cleft palate, micropenis, cryptorchidism, and a ventricular septal defect. He had severe hyponatremia and hyperkalemia on day 10. He was diagnosed to have 21\u2010OHD and CS. His external genitalia demonstrated both cryptorchidism and micropenis, but not penile enlargement.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      DNA was extracted from peripheral leukocytes using standard procedures. Sanger sequence was performed in\n                      <jats:italic>CYP21A2<\/jats:italic>\n                      . Exome sequence was performed, and then, Sanger sequence was performed around variant in\n                      <jats:italic>CHD7<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Genetic screening for\n                      <jats:italic>CYP21A2<\/jats:italic>\n                      gene was performed and compound heterozygous variants of c.293\u201013A\/C&gt;G (IVS2\u201013A\/C&gt;G) and c.518T&gt;A (p.I172N) were detected in chromosome 6p21.3. His mother had been heterozygous variant of c.293\u201013A\/C&gt;G, and his father had been heterozygous variant of c.518T&gt;A. Simultaneously, a\n                      <jats:italic>de novo<\/jats:italic>\n                      splicing acceptor alteration in c.7165\u20134 A&gt;G, in chromodomain helicase DNA binding protein\u20107 (\n                      <jats:italic>CHD7<\/jats:italic>\n                      ), located in chromosome 8q12 was detected, and the patient was diagnosed with 21\u2010OHD and CS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Although these two disorders exhibit different modes of inheritance and their co\u2010morbidity is extremely rare, we encountered one male patient who suffered from both 21\u2010OHD and CS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.730","type":"journal-article","created":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T18:39:25Z","timestamp":1557167965000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A case of combined 21\u2010hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism"],"prefix":"10.1002","volume":"7","author":[{"given":"Satoko","family":"Umino","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miyuki","family":"Kitamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Katoh\u2010Fukui","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Usui","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shizuoka General Hospital Shizuoka Japan"},{"name":"National Hospital Organization Kyoto Medical Center Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4064-3102","authenticated-orcid":false,"given":"Shuichi","family":"Yatsuga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasutoshi","family":"Koga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-009-0232-9"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31431-9"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30560"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2018.6.eCollection2018"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.096"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1994.tb02441.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-198506000-00021"},{"key":"e_1_2_6_9_1","unstructured":"Nimkarn S. Gangishetti P. K. Yau M. &New M. I.(2016). 21\u2010hydroxylase\u2010deficient congenital adrenal hyperplasia. 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