CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency
In a retrospective study we evaluated long-term growth, pubertal developmental patterns to final height (FH), and medication in 55 patients (35 females) affected by 21-hydroxylase deficiency. The patients were classified into 3 groups according to predicted mutation severity: group A (11 women and 9...
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| creator | Balsamo, Antonio Cicognani, Alessandro Baldazzi, Lilia Barbaro, Michela Baronio, Federico Gennari, Monia Bal, Milva Cassio, Alessandra Kontaxaki, Krissi Cacciari, Emanuele |
| description | In a retrospective study we evaluated long-term growth, pubertal developmental patterns to final height (FH), and medication in 55 patients (35 females) affected by 21-hydroxylase deficiency. The patients were classified into 3 groups according to predicted mutation severity: group A (11 women and 9 men), homozygous or compound heterozygous for null or In2 splice mutations [residual enzymatic activity (RA), 30%) or compound heterozygous with any of the group A, B, or C mutations. Three patients showed unclassifiable genotypes. FH was similar in the female groups, whereas male patients in group B were shorter than males in groups A and C. Fifty-five percent of patients in group A, 33% in group B, and 40% in group C reached an FH within 0.5 sd of target height. Four of the 7 patients diagnosed via neonatal screening achieved an FH equal to or above the target height. In the entire group, early diagnosis ( |
| doi_str_mv | 10.1210/jc.2003-030123 |
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The patients were classified into 3 groups according to predicted mutation severity: group A (11 women and 9 men), homozygous or compound heterozygous for null or In2 splice mutations [residual enzymatic activity (RA), <1%]; group B (11 women and 4 men), homozygous for I172N or R341P or R426H mutations (RA, ∼2–3%) or compound heterozygous with any of the group A or B mutations; and group C (13 women and 7 men), homozygous for P30L or V281L or P453S mutations (RA, >30%) or compound heterozygous with any of the group A, B, or C mutations. Three patients showed unclassifiable genotypes. FH was similar in the female groups, whereas male patients in group B were shorter than males in groups A and C. Fifty-five percent of patients in group A, 33% in group B, and 40% in group C reached an FH within 0.5 sd of target height. Four of the 7 patients diagnosed via neonatal screening achieved an FH equal to or above the target height. In the entire group, early diagnosis (<1 yr) improved height outcome. Early diagnosed CAH patients who received lower cortisol equivalent doses during the first year of life reached a better FH. Our results underline the importance of mineralocorticoid therapy, as CAH subjects in groups A and B who did not receive this treatment showed reduced FH. Early diagnosis, the use of more physiological cortisol equivalent dosages during the first year of life, and the extension of mineralocorticoid therapy to all classical patients are shown to improve the auxological outcome. Genotypic analysis helped to interpret the height results of our cases and prospectively may represent a useful tool for improving the therapeutic choice and the height outcome.</description><identifier>ISSN: 0021-972X</identifier><identifier>EISSN: 1945-7197</identifier><identifier>DOI: 10.1210/jc.2003-030123</identifier><identifier>PMID: 14671153</identifier><identifier>CODEN: JCEMAZ</identifier><language>eng</language><publisher>Bethesda, MD: Endocrine Society</publisher><subject>Adrenal Hyperplasia, Congenital - genetics ; Adrenal Hyperplasia, Congenital - pathology ; Adrenal Hyperplasia, Congenital - physiopathology ; Adrenals. Adrenal axis. Renin-angiotensin system (diseases) ; Aging ; Biological and medical sciences ; Body Height ; Child ; Child, Preschool ; Cortisol ; Diagnosis ; Endocrinopathies ; Enzymatic activity ; Female ; Fertility ; Genotype ; Genotypes ; Hormones ; Humans ; Hydrocortisone ; Infant ; Infant, Newborn ; Male ; Medical sciences ; Mineralocorticoids - therapeutic use ; Mutation ; Neonates ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Prognosis ; Puberty ; Retrospective Studies ; Steroid 21-hydroxylase ; Steroid 21-Hydroxylase - genetics</subject><ispartof>The journal of clinical endocrinology and metabolism, 2003-12, Vol.88 (12), p.5680-5688</ispartof><rights>Copyright © 2003 by The Endocrine Society 2003</rights><rights>Copyright © 2003 by The Endocrine Society</rights><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5807-e0c8788aa64dd478186d4f5f0cffee98a8101072eec464fb1b262881ce70da953</citedby><cites>FETCH-LOGICAL-c5807-e0c8788aa64dd478186d4f5f0cffee98a8101072eec464fb1b262881ce70da953</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15356407$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14671153$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Balsamo, Antonio</creatorcontrib><creatorcontrib>Cicognani, Alessandro</creatorcontrib><creatorcontrib>Baldazzi, Lilia</creatorcontrib><creatorcontrib>Barbaro, Michela</creatorcontrib><creatorcontrib>Baronio, Federico</creatorcontrib><creatorcontrib>Gennari, Monia</creatorcontrib><creatorcontrib>Bal, Milva</creatorcontrib><creatorcontrib>Cassio, Alessandra</creatorcontrib><creatorcontrib>Kontaxaki, Krissi</creatorcontrib><creatorcontrib>Cacciari, Emanuele</creatorcontrib><title>CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency</title><title>The journal of clinical endocrinology and metabolism</title><addtitle>J Clin Endocrinol Metab</addtitle><description>In a retrospective study we evaluated long-term growth, pubertal developmental patterns to final height (FH), and medication in 55 patients (35 females) affected by 21-hydroxylase deficiency. The patients were classified into 3 groups according to predicted mutation severity: group A (11 women and 9 men), homozygous or compound heterozygous for null or In2 splice mutations [residual enzymatic activity (RA), <1%]; group B (11 women and 4 men), homozygous for I172N or R341P or R426H mutations (RA, ∼2–3%) or compound heterozygous with any of the group A or B mutations; and group C (13 women and 7 men), homozygous for P30L or V281L or P453S mutations (RA, >30%) or compound heterozygous with any of the group A, B, or C mutations. Three patients showed unclassifiable genotypes. FH was similar in the female groups, whereas male patients in group B were shorter than males in groups A and C. Fifty-five percent of patients in group A, 33% in group B, and 40% in group C reached an FH within 0.5 sd of target height. Four of the 7 patients diagnosed via neonatal screening achieved an FH equal to or above the target height. In the entire group, early diagnosis (<1 yr) improved height outcome. Early diagnosed CAH patients who received lower cortisol equivalent doses during the first year of life reached a better FH. Our results underline the importance of mineralocorticoid therapy, as CAH subjects in groups A and B who did not receive this treatment showed reduced FH. Early diagnosis, the use of more physiological cortisol equivalent dosages during the first year of life, and the extension of mineralocorticoid therapy to all classical patients are shown to improve the auxological outcome. Genotypic analysis helped to interpret the height results of our cases and prospectively may represent a useful tool for improving the therapeutic choice and the height outcome.</description><subject>Adrenal Hyperplasia, Congenital - genetics</subject><subject>Adrenal Hyperplasia, Congenital - pathology</subject><subject>Adrenal Hyperplasia, Congenital - physiopathology</subject><subject>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</subject><subject>Aging</subject><subject>Biological and medical sciences</subject><subject>Body Height</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cortisol</subject><subject>Diagnosis</subject><subject>Endocrinopathies</subject><subject>Enzymatic activity</subject><subject>Female</subject><subject>Fertility</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Hormones</subject><subject>Humans</subject><subject>Hydrocortisone</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mineralocorticoids - therapeutic use</subject><subject>Mutation</subject><subject>Neonates</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Prognosis</subject><subject>Puberty</subject><subject>Retrospective Studies</subject><subject>Steroid 21-hydroxylase</subject><subject>Steroid 21-Hydroxylase - genetics</subject><issn>0021-972X</issn><issn>1945-7197</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kVFr2zAUhcXYWNNur3scgrHBoM50bcmSH0u2NYPC8tDB9iQU-XpxqliuZK_Nv5-CwwKDCiQh-M65R_cS8gbYHHJgn7Z2njNWZKxgkBfPyAwqLjIJlXxOZozlkFUy_3lGzmPcMgaci-IlOQNeSgBRzMjd4tcqB3qNnR_2PV7Sq3p0A11i-3szXFLT1XQ1rjEMxtHP-Aed73fYDbTtqBB0ZYY2vSK9DWgGrGnjA001l_s6-Me9MxGTqmltouz-FXnRGBfx9fG-ID--frldLLOb79ffFlc3mRWKyQyZVVIpY0pe11wqUGXNG9Ew2zSIlTIKGDCZI1pe8mYN67zMlQKLktWmEsUF-TD59sHfjxgHvWujRedMh36MWgIXqsyrBL77D9z6MXQpmy6gLMpSJbdEzSfKBh9jwEb3od2ZsNfA9GEIemv1YQh6GkISvD3ajusd1if82PUEvD8CJlrjmmA628YTJwpRciYTxyfuwbsBQ7xz4wMGvUHjho1maSVHlR1qQzpYljYcZB8nmR_7p7Jm_7KKicWu9ja0HfYBYzw14ok__gUx67oP</recordid><startdate>200312</startdate><enddate>200312</enddate><creator>Balsamo, Antonio</creator><creator>Cicognani, Alessandro</creator><creator>Baldazzi, Lilia</creator><creator>Barbaro, Michela</creator><creator>Baronio, Federico</creator><creator>Gennari, Monia</creator><creator>Bal, Milva</creator><creator>Cassio, Alessandra</creator><creator>Kontaxaki, Krissi</creator><creator>Cacciari, Emanuele</creator><general>Endocrine Society</general><general>Oxford University Press</general><general>Copyright by The Endocrine Society</general><scope>IQODW</scope><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>7QP</scope><scope>7T5</scope><scope>7TM</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>200312</creationdate><title>CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency</title><author>Balsamo, Antonio ; Cicognani, Alessandro ; Baldazzi, Lilia ; Barbaro, Michela ; Baronio, Federico ; Gennari, Monia ; Bal, Milva ; Cassio, Alessandra ; Kontaxaki, Krissi ; Cacciari, Emanuele</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5807-e0c8788aa64dd478186d4f5f0cffee98a8101072eec464fb1b262881ce70da953</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adrenal Hyperplasia, Congenital - genetics</topic><topic>Adrenal Hyperplasia, Congenital - pathology</topic><topic>Adrenal Hyperplasia, Congenital - physiopathology</topic><topic>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</topic><topic>Aging</topic><topic>Biological and medical sciences</topic><topic>Body Height</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cortisol</topic><topic>Diagnosis</topic><topic>Endocrinopathies</topic><topic>Enzymatic activity</topic><topic>Female</topic><topic>Fertility</topic><topic>Genotype</topic><topic>Genotypes</topic><topic>Hormones</topic><topic>Humans</topic><topic>Hydrocortisone</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mineralocorticoids - therapeutic use</topic><topic>Mutation</topic><topic>Neonates</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Prognosis</topic><topic>Puberty</topic><topic>Retrospective Studies</topic><topic>Steroid 21-hydroxylase</topic><topic>Steroid 21-Hydroxylase - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Balsamo, Antonio</creatorcontrib><creatorcontrib>Cicognani, Alessandro</creatorcontrib><creatorcontrib>Baldazzi, Lilia</creatorcontrib><creatorcontrib>Barbaro, Michela</creatorcontrib><creatorcontrib>Baronio, Federico</creatorcontrib><creatorcontrib>Gennari, Monia</creatorcontrib><creatorcontrib>Bal, Milva</creatorcontrib><creatorcontrib>Cassio, Alessandra</creatorcontrib><creatorcontrib>Kontaxaki, Krissi</creatorcontrib><creatorcontrib>Cacciari, Emanuele</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>The journal of clinical endocrinology and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Balsamo, Antonio</au><au>Cicognani, Alessandro</au><au>Baldazzi, Lilia</au><au>Barbaro, Michela</au><au>Baronio, Federico</au><au>Gennari, Monia</au><au>Bal, Milva</au><au>Cassio, Alessandra</au><au>Kontaxaki, Krissi</au><au>Cacciari, Emanuele</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency</atitle><jtitle>The journal of clinical endocrinology and metabolism</jtitle><addtitle>J Clin Endocrinol Metab</addtitle><date>2003-12</date><risdate>2003</risdate><volume>88</volume><issue>12</issue><spage>5680</spage><epage>5688</epage><pages>5680-5688</pages><issn>0021-972X</issn><eissn>1945-7197</eissn><coden>JCEMAZ</coden><abstract>In a retrospective study we evaluated long-term growth, pubertal developmental patterns to final height (FH), and medication in 55 patients (35 females) affected by 21-hydroxylase deficiency. The patients were classified into 3 groups according to predicted mutation severity: group A (11 women and 9 men), homozygous or compound heterozygous for null or In2 splice mutations [residual enzymatic activity (RA), <1%]; group B (11 women and 4 men), homozygous for I172N or R341P or R426H mutations (RA, ∼2–3%) or compound heterozygous with any of the group A or B mutations; and group C (13 women and 7 men), homozygous for P30L or V281L or P453S mutations (RA, >30%) or compound heterozygous with any of the group A, B, or C mutations. Three patients showed unclassifiable genotypes. FH was similar in the female groups, whereas male patients in group B were shorter than males in groups A and C. Fifty-five percent of patients in group A, 33% in group B, and 40% in group C reached an FH within 0.5 sd of target height. Four of the 7 patients diagnosed via neonatal screening achieved an FH equal to or above the target height. In the entire group, early diagnosis (<1 yr) improved height outcome. Early diagnosed CAH patients who received lower cortisol equivalent doses during the first year of life reached a better FH. Our results underline the importance of mineralocorticoid therapy, as CAH subjects in groups A and B who did not receive this treatment showed reduced FH. Early diagnosis, the use of more physiological cortisol equivalent dosages during the first year of life, and the extension of mineralocorticoid therapy to all classical patients are shown to improve the auxological outcome. Genotypic analysis helped to interpret the height results of our cases and prospectively may represent a useful tool for improving the therapeutic choice and the height outcome.</abstract><cop>Bethesda, MD</cop><pub>Endocrine Society</pub><pmid>14671153</pmid><doi>10.1210/jc.2003-030123</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Adrenal Hyperplasia, Congenital - genetics Adrenal Hyperplasia, Congenital - pathology Adrenal Hyperplasia, Congenital - physiopathology Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Aging Biological and medical sciences Body Height Child Child, Preschool Cortisol Diagnosis Endocrinopathies Enzymatic activity Female Fertility Genotype Genotypes Hormones Humans Hydrocortisone Infant Infant, Newborn Male Medical sciences Mineralocorticoids - therapeutic use Mutation Neonates Non tumoral diseases. Target tissue resistance. Benign neoplasms Prognosis Puberty Retrospective Studies Steroid 21-hydroxylase Steroid 21-Hydroxylase - genetics |
| title | CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency |
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