{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T22:41:44Z","timestamp":1772232104791,"version":"3.50.1"},"reference-count":12,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,2,1]]},"abstract":"<jats:p>With an estimated prevalence of 1 in 100\u2009000 births, 11\u03b2-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1. Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm. Hormonal profiles and genetic analysis confirmed a diagnosis of 11\u03b2-hydroxylase deficiency. In addition to glucocorticoid replacement, the patient was commenced on growth hormone and a third-generation aromatase inhibitor, anastrozole, in an attempt to optimize his growth. After the initiation of this treatment, the patient\u2019s growth rate improved significantly and bone age advancement slowed. The patient reached a final height of 177.5 cm (0.81 SD score), 11.5 cm above his mid-parental height. This patient is only the second reported case of the use of an aromatase inhibitor in combination with growth hormone to optimize height in 11\u03b2-hydroxylase-deficient CAH. This novel treatment proved to be highly efficacious, with no adverse effects. It may therefore provide a promising option to promote growth in exceptional circumstances in individuals with 11\u03b2-hydroxylase deficiency presenting late with advanced skeletal maturation and consequent short stature.<\/jats:p>","DOI":"10.1542\/peds.2016-0730","type":"journal-article","created":{"date-parts":[[2017,1,26]],"date-time":"2017-01-26T05:05:21Z","timestamp":1485407121000},"source":"Crossref","is-referenced-by-count":16,"title":["Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia"],"prefix":"10.1542","volume":"139","author":[{"given":"Katherine","family":"Hawton","sequence":"first","affiliation":[{"name":"Bristol Royal Hospital for Children, Bristol, United Kingdom;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Walton-Betancourth","sequence":"additional","affiliation":[{"name":"Genetics and Epigenetics in Health and Disease Section, Genetics and Genomic Medicine Programme, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gill","family":"Rumsby","sequence":"additional","affiliation":[{"name":"University College London Hospital, London, United Kingdom; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Raine","sequence":"additional","affiliation":[{"name":"Whittington Hospital, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehul","family":"Dattani","sequence":"additional","affiliation":[{"name":"Genetics and Epigenetics in Health and Disease Section, Genetics and Genomic Medicine Programme, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom;"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2017,2,1]]},"reference":[{"issue":"1","key":"2021121020295968900_B1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1203\/00006450-199701000-00005","article-title":"Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height.","volume":"41","author":"J\u00e4\u00e4skel\u00e4inen","year":"1997","journal-title":"Pediatr Res"},{"issue":"6","key":"2021121020295968900_B2","first-page":"2389","article-title":"Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene.","volume":"81","author":"Skinner","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2021121020295968900_B3","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/s13633-015-0008-0","article-title":"Height augmentation in 11\u03b2-hydroxylase deficiency congenital adrenal 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Spanish]","volume":"67","author":"Or\u00edo Hern\u00e1ndez","year":"2007","journal-title":"An Pediatr (Barc)"},{"issue":"3","key":"2021121020295968900_B7","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1210\/jc.2007-1559","article-title":"Anastrozole increases predicted adult height of short adolescent males treated with growth hormone: a randomized, placebo-controlled, multicenter trial for one to three years.","volume":"93","author":"Mauras","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2021121020295968900_B8","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1111\/j.1365-2265.2006.02499.x","article-title":"Treatment with the aromatase inhibitor letrozole during adolescence increases near-final height in boys with constitutional delay of puberty.","volume":"64","author":"Hero","year":"2006","journal-title":"Clin Endocrinol 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