Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia
With an estimated prevalence of 1 in 100 000 births, 11β-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 re...
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description | With an estimated prevalence of 1 in 100 000 births, 11β-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 11β-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's 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 11β-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 11β-hydroxylase deficiency presenting late with advanced skeletal maturation and consequent short stature. |
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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 11β-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's 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 11β-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 11β-hydroxylase deficiency presenting late with advanced skeletal maturation and consequent short stature.</description><identifier>ISSN: 0031-4005</identifier><identifier>EISSN: 1098-4275</identifier><identifier>DOI: 10.1542/peds.2016-0730</identifier><identifier>PMID: 28126912</identifier><identifier>CODEN: PEDIAU</identifier><language>eng</language><publisher>United States: American Academy of Pediatrics</publisher><subject>Adolescent ; Adrenal Hyperplasia, Congenital - complications ; Adrenal Hyperplasia, Congenital - drug therapy ; Adrenogenital syndrome ; Aromatase inhibitors ; Aromatase Inhibitors - therapeutic use ; Congenital adrenal hyperplasia ; Gene mutation ; Gene mutations ; Growth Disorders - drug therapy ; Growth Disorders - etiology ; Growth Hormone - therapeutic use ; Growth hormones ; Humans ; Hydrocortisone - therapeutic use ; Hypertension ; Male ; Medical treatment ; Nitriles - therapeutic use ; Pediatrics ; Puberty ; Risk factors ; Triazoles - therapeutic use</subject><ispartof>Pediatrics (Evanston), 2017-02, Vol.139 (2), p.e1</ispartof><rights>Copyright © 2017 by the American Academy of Pediatrics.</rights><rights>Copyright American Academy of Pediatrics Feb 2017</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c401t-68160edaabba3605fbf5229cdeb912a5f68930e6b4fe8e442b5e6976bedbc1dc3</citedby><cites>FETCH-LOGICAL-c401t-68160edaabba3605fbf5229cdeb912a5f68930e6b4fe8e442b5e6976bedbc1dc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28126912$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hawton, Katherine</creatorcontrib><creatorcontrib>Walton-Betancourth, Sandra</creatorcontrib><creatorcontrib>Rumsby, Gill</creatorcontrib><creatorcontrib>Raine, Joseph</creatorcontrib><creatorcontrib>Dattani, Mehul</creatorcontrib><title>Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia</title><title>Pediatrics (Evanston)</title><addtitle>Pediatrics</addtitle><description>With an estimated prevalence of 1 in 100 000 births, 11β-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 11β-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's 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 11β-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 11β-hydroxylase deficiency presenting late with advanced skeletal maturation and consequent short stature.</description><subject>Adolescent</subject><subject>Adrenal Hyperplasia, Congenital - complications</subject><subject>Adrenal Hyperplasia, Congenital - drug therapy</subject><subject>Adrenogenital syndrome</subject><subject>Aromatase inhibitors</subject><subject>Aromatase Inhibitors - therapeutic use</subject><subject>Congenital adrenal hyperplasia</subject><subject>Gene mutation</subject><subject>Gene mutations</subject><subject>Growth Disorders - drug therapy</subject><subject>Growth Disorders - etiology</subject><subject>Growth Hormone - therapeutic use</subject><subject>Growth hormones</subject><subject>Humans</subject><subject>Hydrocortisone - therapeutic use</subject><subject>Hypertension</subject><subject>Male</subject><subject>Medical treatment</subject><subject>Nitriles - therapeutic use</subject><subject>Pediatrics</subject><subject>Puberty</subject><subject>Risk factors</subject><subject>Triazoles - therapeutic use</subject><issn>0031-4005</issn><issn>1098-4275</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkcGO0zAQQC0EYsvClSOyxIVLytixneRYIthWWrQcQIiTZSeT1qvEDnYK9O9x6cKB08jSG-tpHiEvGayZFPztjH1ac2CqgKqER2TFoKkLwSv5mKwASlYIAHlFnqV0DwBCVvwpueI146phfEX6mxh-Lge6DXEKHulXlx-bGCazmIR05w_OuiVE-tGc6G6aY_iBdItuf1io87T99omxd4y2we_Ru8WMdNNH9HluTzPGeTTJmefkyWDGhC8e5jX58uH953Zb3N7d7NrNbdEJYEuhaqYAe2OsNaUCOdhBct50PdrsauSg6qYEVFYMWKMQ3EpUTaUs9rZjfVdekzeXf7Pm9yOmRU8udTiOxmM4Js1qxSsl64pl9PV_6H04xuz9h5KVyKeDTBUXam9G1M53wS_4a-nCOOIedZZv7_RG5GsyVnGR-fWF72JIKeKg5-gmE0-agT730ude-txLn3vlhVcPGkc7Yf8P_xuo_A1-eY-p</recordid><startdate>201702</startdate><enddate>201702</enddate><creator>Hawton, Katherine</creator><creator>Walton-Betancourth, Sandra</creator><creator>Rumsby, Gill</creator><creator>Raine, Joseph</creator><creator>Dattani, Mehul</creator><general>American Academy of Pediatrics</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TS</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>NAPCQ</scope><scope>U9A</scope><scope>7X8</scope></search><sort><creationdate>201702</creationdate><title>Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia</title><author>Hawton, Katherine ; Walton-Betancourth, Sandra ; Rumsby, Gill ; Raine, Joseph ; Dattani, Mehul</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c401t-68160edaabba3605fbf5229cdeb912a5f68930e6b4fe8e442b5e6976bedbc1dc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adolescent</topic><topic>Adrenal Hyperplasia, Congenital - complications</topic><topic>Adrenal Hyperplasia, Congenital - drug therapy</topic><topic>Adrenogenital syndrome</topic><topic>Aromatase inhibitors</topic><topic>Aromatase Inhibitors - therapeutic use</topic><topic>Congenital adrenal hyperplasia</topic><topic>Gene mutation</topic><topic>Gene mutations</topic><topic>Growth Disorders - drug therapy</topic><topic>Growth Disorders - etiology</topic><topic>Growth Hormone - therapeutic use</topic><topic>Growth hormones</topic><topic>Humans</topic><topic>Hydrocortisone - therapeutic use</topic><topic>Hypertension</topic><topic>Male</topic><topic>Medical treatment</topic><topic>Nitriles - therapeutic use</topic><topic>Pediatrics</topic><topic>Puberty</topic><topic>Risk factors</topic><topic>Triazoles - therapeutic use</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hawton, Katherine</creatorcontrib><creatorcontrib>Walton-Betancourth, Sandra</creatorcontrib><creatorcontrib>Rumsby, Gill</creatorcontrib><creatorcontrib>Raine, Joseph</creatorcontrib><creatorcontrib>Dattani, Mehul</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Physical Education Index</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatrics (Evanston)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hawton, Katherine</au><au>Walton-Betancourth, Sandra</au><au>Rumsby, Gill</au><au>Raine, Joseph</au><au>Dattani, Mehul</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia</atitle><jtitle>Pediatrics (Evanston)</jtitle><addtitle>Pediatrics</addtitle><date>2017-02</date><risdate>2017</risdate><volume>139</volume><issue>2</issue><spage>e1</spage><pages>e1-</pages><issn>0031-4005</issn><eissn>1098-4275</eissn><coden>PEDIAU</coden><abstract>With an estimated prevalence of 1 in 100 000 births, 11β-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 11β-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's 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 11β-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 11β-hydroxylase deficiency presenting late with advanced skeletal maturation and consequent short stature.</abstract><cop>United States</cop><pub>American Academy of Pediatrics</pub><pmid>28126912</pmid><doi>10.1542/peds.2016-0730</doi><oa>free_for_read</oa></addata></record> |
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subjects | Adolescent Adrenal Hyperplasia, Congenital - complications Adrenal Hyperplasia, Congenital - drug therapy Adrenogenital syndrome Aromatase inhibitors Aromatase Inhibitors - therapeutic use Congenital adrenal hyperplasia Gene mutation Gene mutations Growth Disorders - drug therapy Growth Disorders - etiology Growth Hormone - therapeutic use Growth hormones Humans Hydrocortisone - therapeutic use Hypertension Male Medical treatment Nitriles - therapeutic use Pediatrics Puberty Risk factors Triazoles - therapeutic use |
title | Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia |
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