{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T15:34:33Z","timestamp":1765812873890,"version":"3.48.0"},"reference-count":9,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T00:00:00Z","timestamp":1764720000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>MYRF-related disorder is a recently described rare etiology of differences of sex development (DSD) caused by pathogenic variants in the MYRF gene on chromosome 11. MYRF encodes a membrane-bound transcription factor that is important in the early development of the eyes, lungs, diaphragm, heart, and genitourinary tract. With approximately 60 cases described, there is a need to better understand the associated phenotypes. We present 2 cases of 46, XY individuals found to have critical congenital cardiac disease prenatally, prompting genetic testing and, ultimately, variants in the MYRF gene to highlight the different phenotypes that can be seen in this disorder. Patient 1 had normal female genitalia, m\u00fcllerian structures on imaging, and gonadal failure on biochemical testing. Conversely, patient 2 had perineal hypospadias, severe chordee, bifid scrotum, and bilateral cryptorchidism with normal testicular function in the mini-puberty period. Notably, both MYRF variants are novel and have not been previously reported in the medical literature, expanding the mutational and phenotypic spectrum of this condition.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf277","type":"journal-article","created":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T13:12:10Z","timestamp":1761916330000},"source":"Crossref","is-referenced-by-count":0,"title":["Two Cases of\n                    <i>MYRF<\/i>\n                    -Related Differences of Sex Development: A Wide Phenotypic Spectrum"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-2217-7441","authenticated-orcid":false,"given":"Allie","family":"Dayno","sequence":"first","affiliation":[{"name":"Children's Hospital of Philadelphia , 3501 Civic Center Blvd, Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prerana","family":"Chatty","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia , 3501 Civic Center Blvd, Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Muneer","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia , 3501 Civic Center Blvd, Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Montano","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia , 3501 Civic Center Blvd, Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marissa","family":"Kilberg","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia , 3501 Civic Center Blvd, Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Vogiatzi","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia , 3501 Civic Center Blvd, Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,12,3]]},"reference":[{"issue":"4","key":"2025121510320645000_luaf277-B1","doi-asserted-by":"crossref","first-page":"R197","DOI":"10.1530\/EJE-18-0256","article-title":"GENETICS IN ENDOCRINOLOGY: approaches to molecular genetic diagnosis in the management of differences\/disorders of sex development (DSD): position paper of EU COST action BM 1303 \u2018DSDnet\u2019","volume":"179","author":"Audi","year":"2018","journal-title":"Eur J Endocrinol"},{"issue":"2","key":"2025121510320645000_luaf277-B2","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1111\/cge.12912","article-title":"The current state of diagnostic genetics for conditions affecting sex development","volume":"91","author":"Alhomaidah","year":"2017","journal-title":"Clin 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diseases","volume":"37","author":"Huang","year":"2021","journal-title":"Neurosci Bull"},{"issue":"6","key":"2025121510320645000_luaf277-B6","doi-asserted-by":"crossref","first-page":"e64002","DOI":"10.1002\/ajmg.a.64002","article-title":"MYRF variants in patients with 46,XY differences\/disorders of sex development and literature review","volume":"197","author":"Zhang","year":"2025","journal-title":"Am J Med Genet A"},{"volume-title":"GeneReviews\u00ae [Internet]","author":"Kaplan","key":"2025121510320645000_luaf277-B7"},{"issue":"13","key":"2025121510320645000_luaf277-B8","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1002\/pd.6700","article-title":"Fetal presentation of MYRF-related cardiac urogenital syndrome: an emerging and challenging prenatal diagnosis","volume":"44","author":"Favier","year":"2024","journal-title":"Prenat Diagn"},{"key":"2025121510320645000_luaf277-B9","first-page":"527","article-title":"Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF","volume":"25","author":"Siggs","year":"2019","journal-title":"Mol Vis"}],"container-title":["JCEM Case 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