{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:16:12Z","timestamp":1762078572846,"version":"build-2065373602"},"reference-count":28,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T00:00:00Z","timestamp":1669161600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Dipartimento di Scienze della Salute, Universit\u00e0 del Piemonte Orientale"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to the deficiency of the 21-hydroxylase enzyme, while 3\u03b2-hydroxysteroid dehydrogenase type 2 deficiency accounts for less than five percent of all CAH cases. We report two Moroccan twins from a spontaneous triplet pregnancy. The 46,XY newborn exhibited a disorder of sexual differentiation (DSD) with hypo virilization, while the 46,XX newborn had normal female external genitalia. In the first week of life, they showed hyponatremia and primary adrenal insufficiency with a slight 17OHP elevation and increased DHEAS and renin levels. The aCGH-SNP analysis disclosed a 8.36 Mb long contiguous stretch of homozygosity (LCSH) on chromosome 1p13.2-p11.2 including the candidate HSD3B2 gene, a LCSH of 7.3 Mb on 14q31.1-q32.11, and a 7 Mb duplication on 10q22.3-q23.2. Clinical exome sequencing revealed the biallelic c.969T &gt; G (p.Asn323Lys) HSD3B2, likely pathogenic, variant in both of the affected twins. This case emphasizes the importance of a prompt molecular diagnosis performed through the combination of aCGH and clinical exome, both for establishment of correct therapy and for follow-up, as the newborns also carry a genomic rearrangement with possible clinical implications.<\/jats:p>","DOI":"10.3390\/genes13122190","type":"journal-article","created":{"date-parts":[[2022,11,24]],"date-time":"2022-11-24T01:46:56Z","timestamp":1669254416000},"page":"2190","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3536-3288","authenticated-orcid":false,"given":"Simona","family":"Mellone","sequence":"first","affiliation":[{"name":"Laboratory of Genetics, Clinical Biochemistry Unit, University Hospital Maggiore della Carit\u00e0, 28100 Novara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrica","family":"Bertelli","sequence":"additional","affiliation":[{"name":"Pediatric and Pediatric Emergency Unit, Children Hospital, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, 15121 Alessandria, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Roviglione","sequence":"additional","affiliation":[{"name":"Pediatric and Pediatric Emergency Unit, Children Hospital, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, 15121 Alessandria, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9786-0602","authenticated-orcid":false,"given":"Denise","family":"Vurchio","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Clinical Biochemistry Unit, University Hospital Maggiore della Carit\u00e0, 28100 Novara, Italy"},{"name":"Department of Health Sciences, Universit\u00e0 del Piemonte Orientale, 28100 Novara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Ronzani","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Clinical Biochemistry Unit, University Hospital Maggiore della Carit\u00e0, 28100 Novara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Secco","sequence":"additional","affiliation":[{"name":"Pediatric and Pediatric Emergency Unit, Children Hospital, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, 15121 Alessandria, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5997-7057","authenticated-orcid":false,"given":"Enrico","family":"Felici","sequence":"additional","affiliation":[{"name":"Pediatric and Pediatric Emergency Unit, Children Hospital, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, 15121 Alessandria, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariachiara Martina","family":"Strozzi","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, 15121 Alessandria, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9461-8391","authenticated-orcid":false,"given":"Federico","family":"Schena","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, 15121 Alessandria, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6686-4600","authenticated-orcid":false,"given":"Mara","family":"Giordano","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Clinical Biochemistry Unit, University Hospital Maggiore della Carit\u00e0, 28100 Novara, Italy"},{"name":"Department of Health Sciences, Universit\u00e0 del Piemonte Orientale, 28100 Novara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.beem.2008.10.014","article-title":"Genetics of congenital adrenal hyperplasia","volume":"23","author":"Krone","year":"2009","journal-title":"Best. Pract. Res. Clin. Endocrinol. 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