{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:48Z","timestamp":1784557068169,"version":"3.55.0"},"reference-count":10,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,9,1]]},"abstract":"\n Summary<\/jats:title>\n Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexion compared to the family\u2019s skin color. Based on the clinical and biochemical findings, CLAH was diagnosed and glucocorticoid replacement therapy was initiated. As a result, we suggest that pediatricians should always investigate the possibility of adrenal insufficiency when encountering unusual dark skin.<\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n Pediatricians should be prompted to rule out adrenal insufficiency in unexpectedly dark skin neonates.<\/jats:p>\n <\/jats:list-item>\n \n In such patients, pediatricians should not wait until the neonate develops an adrenal crisis.<\/jats:p>\n <\/jats:list-item>\n \n A low level of 17-hydroxyprogesterone does not always rule out the possibility of inherited adrenal gland disorders, and additional tests should be performed for early detection.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-22-0294","type":"journal-article","created":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T09:56:05Z","timestamp":1662112565000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":3,"title":["Congenital lipoid adrenal hyperplasia in a Saudi infant"],"prefix":"10.1530","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9319-1632","authenticated-orcid":true,"given":"Siham Hussein","family":"Subki","sequence":"first","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8677-3212","authenticated-orcid":true,"given":"Raghad","family":"Wadea Mohammed Hussain","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7168-6447","authenticated-orcid":true,"given":"Abdulmoein Eid","family":"Al-Agha","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Journal of the Medical Association of Thailand","first-page":"531","article-title":"P450scc deficiency (congenital lipoid adrenal hyperplasia): first reported case in Thailand and literature review","volume":"79","author":"Jaruratanasirikul","year":"1996","unstructured":"Jaruratanasirikul SP450scc deficiency (congenital lipoid adrenal hyperplasia): first reported case in Thailand and literature review. Journal of the Medical Association of Thailand199679531\u2013535."},{"key":"bib2","series-title":"Genetic Steroid Disorders","first-page":"145","article-title":"Chapter 3I \u2013 Disorders in the initial steps in steroidogenesis","author":"Miller","year":"2014","unstructured":"Miller WLGucev ZS. Chapter 3I \u2013 Disorders in the initial steps in steroidogenesis. In Genetic Steroid Disorders, pp. 145\u2013164. Eds New MILekarev OParsa AYuen TTO'Malley BWHammer GD. San Diego: AcademicPress, 2014. (https:\/\/doi.org\/10.1016\/B978-0-12-416006-4.00011-9)"},{"key":"bib3","series-title":"Journal of Clinical Endocrinology and Metabolism","doi-asserted-by":"publisher","first-page":"4781","DOI":"10.1210\/jc.2006-1565","article-title":"Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia","volume":"91","author":"Baker","year":"2006","unstructured":"Baker BYLin LKim CJRaza JSmith CPMiller WLAchermann JC. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. Journal of Clinical Endocrinology and Metabolism2006914781\u20134785. (https:\/\/doi.org\/10.1210\/jc.2006-1565)10.1210\/jc.2006-1565"},{"key":"bib4","series-title":"Indian Pediatrics","first-page":"399","article-title":"Phenotypic variability in congenital lipoid adrenal hyperplasia","volume":"51","author":"Joshi","year":"2014","unstructured":"Joshi RDas DTamhankar PShaikh S. Phenotypic variability in congenital lipoid adrenal hyperplasia. Indian Pediatrics201451399\u2013400."},{"key":"bib5","series-title":"Journal of Clinical Investigation","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1172\/JCI119284","article-title":"Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (STAR) gene","volume":"99","author":"Fujieda","year":"1997","unstructured":"Fujieda KTajima TNakae JSageshima STachibana KSuwa SSugawara TStrauss 3rd JF. Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (STAR) gene. Journal of Clinical Investigation1997991265\u20131271. (https:\/\/doi.org\/10.1172\/JCI119284)10.1172\/JCI119284"},{"key":"bib6","series-title":"Medicine","article-title":"A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia","volume":"96","author":"Fu","year":"2017","unstructured":"Fu RLu LJiang JNie MWang XLu Z. A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia. Medicine201796 e6994. (https:\/\/doi.org\/10.1097\/MD.0000000000006994)"},{"key":"bib7","series-title":"JAMA Dermatology","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1001\/jamadermatol.2019.3070","article-title":"Diffuse hyperpigmentation in infants during monsoon season","volume":"156","author":"Dabas","year":"2020","unstructured":"Dabas GVinay KMahajan R. Diffuse hyperpigmentation in infants during monsoon season. JAMA Dermatology202015699\u2013101. (https:\/\/doi.org\/10.1001\/jamadermatol.2019.3070)10.1001\/jamadermatol.2019.3070"},{"key":"bib8","series-title":"Clinical Endocrinology","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1111\/cen.14109","article-title":"Primary adrenal insufficiency: new genetic causes and their long-term consequences","volume":"92","author":"Buonocore","year":"2020","unstructured":"Buonocore FAchermann JC. Primary adrenal insufficiency: new genetic causes and their long-term consequences. Clinical Endocrinology20209211\u201320. (https:\/\/doi.org\/10.1111\/cen.14109)10.1111\/cen.14109"},{"key":"bib9","series-title":"Journal of Pediatric Endocrinology and Metabolism","first-page":"677","article-title":"Evaluation of factors associated with elevated newborn 17-hydroxyprogesterone levels","volume":"30","author":"Anandi","year":"2017","unstructured":"Anandi VSShaila B. Evaluation of factors associated with elevated newborn 17-hydroxyprogesterone levels. Journal of Pediatric Endocrinology and Metabolism201730677\u2013681. (https:\/\/doi.org\/10.1515\/jpem-2016-0459)"},{"key":"bib10","series-title":"Annals of Pediatric Endocrinology and Metabolism","doi-asserted-by":"publisher","first-page":"179","DOI":"10.6065\/apem.2014.19.4.179","article-title":"Congenital lipoid adrenal hyperplasia","volume":"19","author":"Kim","year":"2014","unstructured":"Kim CJCongenital lipoid adrenal hyperplasia. Annals of Pediatric Endocrinology and Metabolism201419179\u2013183. 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