{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:58Z","timestamp":1784557078129,"version":"3.55.0"},"reference-count":10,"publisher":"Bioscientifica","issue":"2","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,4,1]]},"abstract":"\n Summary<\/jats:title>\n \n 11\u03b2-hydroxylase deficiency (11\u03b2OHD) (5\u20137%) is an uncommon cause of congenital adrenal hyperplasia compared to 21-hydroxylase deficiency (21OHD) (90%). We report a case of a 5-year-old boy who presented with gonadotropin-independent precocious puberty along with hypertension, generalized hyperpigmentation and hypokalemia. 17-hydroxyprogesterone came raised along with low stimulated cortisol. With the unavailability of urinary steroid profiling and serum 11-\u03b2 deoxycortisol levels, we went ahead with molecular analysis of the patient. It confirmed exon deletion (1\u20136) of\n CYP11B1<\/jats:italic>\n and exon deletion (8\u20139) of the\n CYP11B2<\/jats:italic>\n gene, and the diagnosis of 11\u03b2OHD was substantiated. The patient was started on oral hydrocortisone tablet and responded promptly regarding blood pressure normalization and hypokalemia resolution. This case highlights the importance of discriminatory features of hypertension and hypokalemia, which can effectively differentiate from 21OHD to 11\u03b2OHD clinically. In addition, we have reported a comparatively rare genetic finding of 1\u20136 exon deletion in the\n CYP11B1<\/jats:italic>\n gene.\n <\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n CYP11B1 OHD should be considered one of the primary differentials for boys presenting with precocious puberty and hypertension.<\/jats:p>\n <\/jats:list-item>\n \n 11\u03b2OHD can cause childhood-onset salt-wasting episodes and, later, significant hypertension with precocious puberty.<\/jats:p>\n <\/jats:list-item>\n \n Increased 17-hydroxyprogesterone can be found in both 21OHD and 11 \u03b2OHD cases; significant hypertension and hypokalemia are discriminatory clinical findings besides renin, aldosterone assay and molecular analysis.<\/jats:p>\n <\/jats:list-item>\n \n Prompt initiation of glucocorticoids, the mainstay of the treatment of 11\u03b2OHD, retards pubertal progression and normalizes blood pressure. Additional antihypertensives can be used in refractory cases.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-25-0004","type":"journal-article","created":{"date-parts":[[2025,4,7]],"date-time":"2025-04-07T10:49:16Z","timestamp":1744022956000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Precocious puberty in male with hypertension and hypokalemia; a definite diagnostic clue for 11\u03b2 hydroxylase deficiency CAH"],"prefix":"10.1530","volume":"2025","author":[{"given":"Minal","family":"Pande","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, All India Institute of Medical Sciences Nagpur, Nagpur, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1527-2722","authenticated-orcid":true,"given":"Shinjan","family":"Patra","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, All India Institute of Medical Sciences Nagpur, Nagpur, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kishore K","family":"Katam","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, All India Institute of Medical Sciences Nagpur, Nagpur, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhivya","family":"Darshini S","sequence":"additional","affiliation":[{"name":"Department of Genomics, Neuberg Center for Genomic Medicine, Ahmedabad, Gujarat, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Endocrinol Metab Clin North Am","first-page":"61","article-title":"Steroid 11\u03b2-hydroxylase deficiency and related disorders","volume":"30","author":"White PC","year":"2001","unstructured":"White PC\n\n. Steroid 11\u03b2-hydroxylase deficiency and related disorders. Endocrinol Metab Clin North Am 2001 30 61\u201379. (https:\/\/doi.org\/10.1016\/s0889-8529(08)70019-7)"},{"key":"bib2","series-title":"Pan Afr Med J","first-page":"226","article-title":"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency in a Tunisian family","volume":"36","author":"Elfekih H","year":"2020","unstructured":"Elfekih H\n, \nAbdelkrim AB\n, \nMarzouk H\n, et al.\n Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency in a Tunisian family. Pan Afr Med J 2020 36 226. 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Curr Opin Endocrinol Diabetes Obes 2017 24 39\u201342. (https:\/\/doi.org\/10.1097\/med.0000000000000308)"},{"key":"bib5","series-title":"Eur J Pediatr","first-page":"231","article-title":"Hypertension in a neonate with 11 beta-hydroxylase deficiency","volume":"143","author":"Mimouni M","year":"1985","unstructured":"Mimouni M\n, \nKaufman H\n, \nRoitman A\n, et al.\n Hypertension in a neonate with 11 beta-hydroxylase deficiency. Eur J Pediatr 1985 143 231\u2013233. (https:\/\/doi.org\/10.1007\/bf00442149)"},{"key":"bib6","series-title":"J Med Cases","first-page":"221","article-title":"Perioperative care of an adolescent with 11-beta-hydroxylase deficiency","volume":"6","author":"Whitaker E","year":"2015","unstructured":"Whitaker E\n, \nArgote-Romero G\n, \nJayanthi VR\n, et al.\n Perioperative care of an adolescent with 11-beta-hydroxylase deficiency. J Med Cases 2015 6 221\u2013225. 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