Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia
Objective To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome. Setting Tertiary paediatric endocrine centre. Methods Retrospective evaluation of 14 male patients with partial androgen insensitivity syndrome (PAIS) with ve...
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| Veröffentlicht in: | Archives of disease in childhood 2012-05, Vol.97 (5), p.403-409 |
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| creator | Hellmann, Philip Christiansen, Peter Johannsen, Trine Holm Main, Katharina M Duno, Morten Juul, Anders |
| description | Objective To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome. Setting Tertiary paediatric endocrine centre. Methods Retrospective evaluation of 14 male patients with partial androgen insensitivity syndrome (PAIS) with verified androgen receptor (AR) mutations. The authors recorded phenotypic characteristics at birth and external masculinisation score (EMS), registered longitudinal growth, circulating levels of testosterone, estradiol, luteinising hormone (LH), follicle-stimulating hormone (FSH), inhibin-B and sex hormone binding globulin (SHBG), in addition to phenotype at postpubertal follow up. Results The EMS ranged from 5 to 12 in PAIS at birth. Six patients were born with hypospadias and all patients developed gynaecomastia in puberty. Eight of the patients received testosterone treatment. At follow-up penile size was impaired irrespective of EMS at birth, but responded to pubertal androgen therapy in some of the patients. Serum levels of testosterone, estradiol, SHBG and LH, but not FSH and inhibin B, were markedly elevated in puberty. Final height was 181.3 cm (165.7–190.5 cm) corresponding to an SD score of 0.7 (−2.1 to +2.1 SD, n=10). Conclusion Gynaecomastia and impaired phallic growth are frequently observed in adults with PAIS, but may be ameliorated by androgen therapy. The authors suggest that male patients presenting with gynaecomastia in puberty, and elevated circulating levels of testosterone, estradiol and LH in puberty, but normal FSH, should be suspected of having PAIS and undergo genetic testing for AR mutations. |
| doi_str_mv | 10.1136/archdischild-2011-300584 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_1009537610</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A296515292</galeid><sourcerecordid>A296515292</sourcerecordid><originalsourceid>FETCH-LOGICAL-b493t-96eed683f0f4e2de3aa3c3d6cee2036c1f15648f9ad5bff51a55ba32d2d0d9d53</originalsourceid><addsrcrecordid>eNqNkd1uEzEQhVcIREvhFZAlhMQFC_5ZO17uqggKqFBAhVvLsWezDrt2ansb8io8LQ4JLeKKK8vjb2aOz6kqRPALQph4qaPprUumd4OtKSakZhhz2dypjkkjZCk1zd3qGGPM6lZKeVQ9SGmFMaFSsvvVEaUNKQw7rn5-0AOgtc4OfE5o43JfbjE7PSDtbQxL8Mj5BD657K5d3qK03dVHeIU0GoJfujxZ5wvfhWEIm3pao9ChZQyb3D9HEdYx2MmUZkB9iGPwkHajUe4BWbiGIazHsvx309ZrMGHUqQh4WN3r9JDg0eE8qb6-eX05f1ufX5y9m5-e14umZbluBYAVknW4a4BaYFozw6wwABQzYUhHuGhk12rLF13HieZ8oRm11GLbWs5Oqmf7uUXo1QQpq7FYC8OgPYQpKYJxy9lMEFzQJ_-gqzDF8vdCyeJtg8VsN7DeU8virXLeBJ_hRzbFHliCKuLnF-qUtoITTltaeLnnTQwpRejUOrpRx21ZrXZ5q7_zVru81T7v0vr4IGhajGBvGv8EXICnB0Ano4cuam9cuuUEpq3ks1vNLhWtN-86fldixmZcffw2V4J9uXzffDpTnwvP9vxiXP2_3F-3EtqD</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1828840675</pqid></control><display><type>article</type><title>Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia</title><source>MEDLINE</source><source>BMJ Journals - NESLi2</source><creator>Hellmann, Philip ; Christiansen, Peter ; Johannsen, Trine Holm ; Main, Katharina M ; Duno, Morten ; Juul, Anders</creator><creatorcontrib>Hellmann, Philip ; Christiansen, Peter ; Johannsen, Trine Holm ; Main, Katharina M ; Duno, Morten ; Juul, Anders</creatorcontrib><description>Objective To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome. Setting Tertiary paediatric endocrine centre. Methods Retrospective evaluation of 14 male patients with partial androgen insensitivity syndrome (PAIS) with verified androgen receptor (AR) mutations. The authors recorded phenotypic characteristics at birth and external masculinisation score (EMS), registered longitudinal growth, circulating levels of testosterone, estradiol, luteinising hormone (LH), follicle-stimulating hormone (FSH), inhibin-B and sex hormone binding globulin (SHBG), in addition to phenotype at postpubertal follow up. Results The EMS ranged from 5 to 12 in PAIS at birth. Six patients were born with hypospadias and all patients developed gynaecomastia in puberty. Eight of the patients received testosterone treatment. At follow-up penile size was impaired irrespective of EMS at birth, but responded to pubertal androgen therapy in some of the patients. Serum levels of testosterone, estradiol, SHBG and LH, but not FSH and inhibin B, were markedly elevated in puberty. Final height was 181.3 cm (165.7–190.5 cm) corresponding to an SD score of 0.7 (−2.1 to +2.1 SD, n=10). Conclusion Gynaecomastia and impaired phallic growth are frequently observed in adults with PAIS, but may be ameliorated by androgen therapy. The authors suggest that male patients presenting with gynaecomastia in puberty, and elevated circulating levels of testosterone, estradiol and LH in puberty, but normal FSH, should be suspected of having PAIS and undergo genetic testing for AR mutations.</description><identifier>ISSN: 0003-9888</identifier><identifier>EISSN: 1468-2044</identifier><identifier>DOI: 10.1136/archdischild-2011-300584</identifier><identifier>PMID: 22412043</identifier><identifier>CODEN: ADCHAK</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><subject>Adolescent ; Adolescents ; Adult ; Adults ; Androgen insensitivity syndrome ; Androgen-Insensitivity Syndrome - blood ; Androgen-Insensitivity Syndrome - complications ; Androgen-Insensitivity Syndrome - diagnosis ; Androgen-Insensitivity Syndrome - genetics ; Androgens ; Biological and medical sciences ; Body Composition ; Body Height - physiology ; Body mass index ; Care and treatment ; Causes of ; Child ; Child, Preschool ; Disease ; Estradiol - blood ; Feedback (Response) ; Females ; Follicle Stimulating Hormone - blood ; Follow-Up Studies ; Followup Studies ; General aspects ; Genetic screening ; Genotype & phenotype ; Gonadal Steroid Hormones - blood ; Growth Disorders - blood ; Growth Disorders - etiology ; Gynecology. Andrology. Obstetrics ; Gynecomastia ; Gynecomastia - blood ; Gynecomastia - etiology ; Hormone therapy ; Hormones ; Humans ; Infant ; Infant, Newborn ; Luteinizing Hormone - blood ; Male ; Males ; Mammary gland diseases ; Medical case management ; Medical sciences ; Methods ; Miscellaneous ; Mutation ; Neonates ; Non tumoral diseases ; Patient outcomes ; Patients ; Phenotype ; Prevention and actions ; Puberty ; Public health. Hygiene ; Public health. Hygiene-occupational medicine ; Receptors, Androgen - genetics ; Retrospective Studies ; Scientific Concepts ; Sex Hormone-Binding Globulin - metabolism ; Testosterone ; Testosterone - blood ; Young Adult</subject><ispartof>Archives of disease in childhood, 2012-05, Vol.97 (5), p.403-409</ispartof><rights>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</rights><rights>2015 INIST-CNRS</rights><rights>Copyright: 2012 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b493t-96eed683f0f4e2de3aa3c3d6cee2036c1f15648f9ad5bff51a55ba32d2d0d9d53</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttp://adc.bmj.com/content/97/5/403.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttp://adc.bmj.com/content/97/5/403.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,315,781,785,3197,23576,27929,27930,77605,77636</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=26029857$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22412043$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hellmann, Philip</creatorcontrib><creatorcontrib>Christiansen, Peter</creatorcontrib><creatorcontrib>Johannsen, Trine Holm</creatorcontrib><creatorcontrib>Main, Katharina M</creatorcontrib><creatorcontrib>Duno, Morten</creatorcontrib><creatorcontrib>Juul, Anders</creatorcontrib><title>Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia</title><title>Archives of disease in childhood</title><addtitle>Arch Dis Child</addtitle><description>Objective To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome. Setting Tertiary paediatric endocrine centre. Methods Retrospective evaluation of 14 male patients with partial androgen insensitivity syndrome (PAIS) with verified androgen receptor (AR) mutations. The authors recorded phenotypic characteristics at birth and external masculinisation score (EMS), registered longitudinal growth, circulating levels of testosterone, estradiol, luteinising hormone (LH), follicle-stimulating hormone (FSH), inhibin-B and sex hormone binding globulin (SHBG), in addition to phenotype at postpubertal follow up. Results The EMS ranged from 5 to 12 in PAIS at birth. Six patients were born with hypospadias and all patients developed gynaecomastia in puberty. Eight of the patients received testosterone treatment. At follow-up penile size was impaired irrespective of EMS at birth, but responded to pubertal androgen therapy in some of the patients. Serum levels of testosterone, estradiol, SHBG and LH, but not FSH and inhibin B, were markedly elevated in puberty. Final height was 181.3 cm (165.7–190.5 cm) corresponding to an SD score of 0.7 (−2.1 to +2.1 SD, n=10). Conclusion Gynaecomastia and impaired phallic growth are frequently observed in adults with PAIS, but may be ameliorated by androgen therapy. The authors suggest that male patients presenting with gynaecomastia in puberty, and elevated circulating levels of testosterone, estradiol and LH in puberty, but normal FSH, should be suspected of having PAIS and undergo genetic testing for AR mutations.</description><subject>Adolescent</subject><subject>Adolescents</subject><subject>Adult</subject><subject>Adults</subject><subject>Androgen insensitivity syndrome</subject><subject>Androgen-Insensitivity Syndrome - blood</subject><subject>Androgen-Insensitivity Syndrome - complications</subject><subject>Androgen-Insensitivity Syndrome - diagnosis</subject><subject>Androgen-Insensitivity Syndrome - genetics</subject><subject>Androgens</subject><subject>Biological and medical sciences</subject><subject>Body Composition</subject><subject>Body Height - physiology</subject><subject>Body mass index</subject><subject>Care and treatment</subject><subject>Causes of</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Disease</subject><subject>Estradiol - blood</subject><subject>Feedback (Response)</subject><subject>Females</subject><subject>Follicle Stimulating Hormone - blood</subject><subject>Follow-Up Studies</subject><subject>Followup Studies</subject><subject>General aspects</subject><subject>Genetic screening</subject><subject>Genotype & phenotype</subject><subject>Gonadal Steroid Hormones - blood</subject><subject>Growth Disorders - blood</subject><subject>Growth Disorders - etiology</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Gynecomastia</subject><subject>Gynecomastia - blood</subject><subject>Gynecomastia - etiology</subject><subject>Hormone therapy</subject><subject>Hormones</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Luteinizing Hormone - blood</subject><subject>Male</subject><subject>Males</subject><subject>Mammary gland diseases</subject><subject>Medical case management</subject><subject>Medical sciences</subject><subject>Methods</subject><subject>Miscellaneous</subject><subject>Mutation</subject><subject>Neonates</subject><subject>Non tumoral diseases</subject><subject>Patient outcomes</subject><subject>Patients</subject><subject>Phenotype</subject><subject>Prevention and actions</subject><subject>Puberty</subject><subject>Public health. Hygiene</subject><subject>Public health. Hygiene-occupational medicine</subject><subject>Receptors, Androgen - genetics</subject><subject>Retrospective Studies</subject><subject>Scientific Concepts</subject><subject>Sex Hormone-Binding Globulin - metabolism</subject><subject>Testosterone</subject><subject>Testosterone - blood</subject><subject>Young Adult</subject><issn>0003-9888</issn><issn>1468-2044</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNkd1uEzEQhVcIREvhFZAlhMQFC_5ZO17uqggKqFBAhVvLsWezDrt2ansb8io8LQ4JLeKKK8vjb2aOz6kqRPALQph4qaPprUumd4OtKSakZhhz2dypjkkjZCk1zd3qGGPM6lZKeVQ9SGmFMaFSsvvVEaUNKQw7rn5-0AOgtc4OfE5o43JfbjE7PSDtbQxL8Mj5BD657K5d3qK03dVHeIU0GoJfujxZ5wvfhWEIm3pao9ChZQyb3D9HEdYx2MmUZkB9iGPwkHajUe4BWbiGIazHsvx309ZrMGHUqQh4WN3r9JDg0eE8qb6-eX05f1ufX5y9m5-e14umZbluBYAVknW4a4BaYFozw6wwABQzYUhHuGhk12rLF13HieZ8oRm11GLbWs5Oqmf7uUXo1QQpq7FYC8OgPYQpKYJxy9lMEFzQJ_-gqzDF8vdCyeJtg8VsN7DeU8virXLeBJ_hRzbFHliCKuLnF-qUtoITTltaeLnnTQwpRejUOrpRx21ZrXZ5q7_zVru81T7v0vr4IGhajGBvGv8EXICnB0Ano4cuam9cuuUEpq3ks1vNLhWtN-86fldixmZcffw2V4J9uXzffDpTnwvP9vxiXP2_3F-3EtqD</recordid><startdate>20120501</startdate><enddate>20120501</enddate><creator>Hellmann, Philip</creator><creator>Christiansen, Peter</creator><creator>Johannsen, Trine Holm</creator><creator>Main, Katharina M</creator><creator>Duno, Morten</creator><creator>Juul, Anders</creator><general>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</general><general>BMJ Publishing Group</general><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><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>0-V</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88B</scope><scope>88E</scope><scope>88I</scope><scope>8A4</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ALSLI</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>CJNVE</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9-</scope><scope>K9.</scope><scope>LK8</scope><scope>M0P</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEDU</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20120501</creationdate><title>Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia</title><author>Hellmann, Philip ; Christiansen, Peter ; Johannsen, Trine Holm ; Main, Katharina M ; Duno, Morten ; Juul, Anders</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b493t-96eed683f0f4e2de3aa3c3d6cee2036c1f15648f9ad5bff51a55ba32d2d0d9d53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adolescent</topic><topic>Adolescents</topic><topic>Adult</topic><topic>Adults</topic><topic>Androgen insensitivity syndrome</topic><topic>Androgen-Insensitivity Syndrome - blood</topic><topic>Androgen-Insensitivity Syndrome - complications</topic><topic>Androgen-Insensitivity Syndrome - diagnosis</topic><topic>Androgen-Insensitivity Syndrome - genetics</topic><topic>Androgens</topic><topic>Biological and medical sciences</topic><topic>Body Composition</topic><topic>Body Height - physiology</topic><topic>Body mass index</topic><topic>Care and treatment</topic><topic>Causes of</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Disease</topic><topic>Estradiol - blood</topic><topic>Feedback (Response)</topic><topic>Females</topic><topic>Follicle Stimulating Hormone - blood</topic><topic>Follow-Up Studies</topic><topic>Followup Studies</topic><topic>General aspects</topic><topic>Genetic screening</topic><topic>Genotype & phenotype</topic><topic>Gonadal Steroid Hormones - blood</topic><topic>Growth Disorders - blood</topic><topic>Growth Disorders - etiology</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Gynecomastia</topic><topic>Gynecomastia - blood</topic><topic>Gynecomastia - etiology</topic><topic>Hormone therapy</topic><topic>Hormones</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Luteinizing Hormone - blood</topic><topic>Male</topic><topic>Males</topic><topic>Mammary gland diseases</topic><topic>Medical case management</topic><topic>Medical sciences</topic><topic>Methods</topic><topic>Miscellaneous</topic><topic>Mutation</topic><topic>Neonates</topic><topic>Non tumoral diseases</topic><topic>Patient outcomes</topic><topic>Patients</topic><topic>Phenotype</topic><topic>Prevention and actions</topic><topic>Puberty</topic><topic>Public health. Hygiene</topic><topic>Public health. Hygiene-occupational medicine</topic><topic>Receptors, Androgen - genetics</topic><topic>Retrospective Studies</topic><topic>Scientific Concepts</topic><topic>Sex Hormone-Binding Globulin - metabolism</topic><topic>Testosterone</topic><topic>Testosterone - blood</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hellmann, Philip</creatorcontrib><creatorcontrib>Christiansen, Peter</creatorcontrib><creatorcontrib>Johannsen, Trine Holm</creatorcontrib><creatorcontrib>Main, Katharina M</creatorcontrib><creatorcontrib>Duno, Morten</creatorcontrib><creatorcontrib>Juul, Anders</creatorcontrib><collection>Istex</collection><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>ProQuest Social Sciences Premium Collection</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Education Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>Education Periodicals</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Social Science Premium Collection</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection (ProQuest)</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Education Collection</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Education Database</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database (ProQuest)</collection><collection>Biological Science Database</collection><collection>ProQuest One Education</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Archives of disease in childhood</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hellmann, Philip</au><au>Christiansen, Peter</au><au>Johannsen, Trine Holm</au><au>Main, Katharina M</au><au>Duno, Morten</au><au>Juul, Anders</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia</atitle><jtitle>Archives of disease in childhood</jtitle><addtitle>Arch Dis Child</addtitle><date>2012-05-01</date><risdate>2012</risdate><volume>97</volume><issue>5</issue><spage>403</spage><epage>409</epage><pages>403-409</pages><issn>0003-9888</issn><eissn>1468-2044</eissn><coden>ADCHAK</coden><abstract>Objective To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome. Setting Tertiary paediatric endocrine centre. Methods Retrospective evaluation of 14 male patients with partial androgen insensitivity syndrome (PAIS) with verified androgen receptor (AR) mutations. The authors recorded phenotypic characteristics at birth and external masculinisation score (EMS), registered longitudinal growth, circulating levels of testosterone, estradiol, luteinising hormone (LH), follicle-stimulating hormone (FSH), inhibin-B and sex hormone binding globulin (SHBG), in addition to phenotype at postpubertal follow up. Results The EMS ranged from 5 to 12 in PAIS at birth. Six patients were born with hypospadias and all patients developed gynaecomastia in puberty. Eight of the patients received testosterone treatment. At follow-up penile size was impaired irrespective of EMS at birth, but responded to pubertal androgen therapy in some of the patients. Serum levels of testosterone, estradiol, SHBG and LH, but not FSH and inhibin B, were markedly elevated in puberty. Final height was 181.3 cm (165.7–190.5 cm) corresponding to an SD score of 0.7 (−2.1 to +2.1 SD, n=10). Conclusion Gynaecomastia and impaired phallic growth are frequently observed in adults with PAIS, but may be ameliorated by androgen therapy. The authors suggest that male patients presenting with gynaecomastia in puberty, and elevated circulating levels of testosterone, estradiol and LH in puberty, but normal FSH, should be suspected of having PAIS and undergo genetic testing for AR mutations.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</pub><pmid>22412043</pmid><doi>10.1136/archdischild-2011-300584</doi><tpages>7</tpages></addata></record> |
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| ispartof | Archives of disease in childhood, 2012-05, Vol.97 (5), p.403-409 |
| issn | 0003-9888 1468-2044 |
| language | eng |
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| source | MEDLINE; BMJ Journals - NESLi2 |
| subjects | Adolescent Adolescents Adult Adults Androgen insensitivity syndrome Androgen-Insensitivity Syndrome - blood Androgen-Insensitivity Syndrome - complications Androgen-Insensitivity Syndrome - diagnosis Androgen-Insensitivity Syndrome - genetics Androgens Biological and medical sciences Body Composition Body Height - physiology Body mass index Care and treatment Causes of Child Child, Preschool Disease Estradiol - blood Feedback (Response) Females Follicle Stimulating Hormone - blood Follow-Up Studies Followup Studies General aspects Genetic screening Genotype & phenotype Gonadal Steroid Hormones - blood Growth Disorders - blood Growth Disorders - etiology Gynecology. Andrology. Obstetrics Gynecomastia Gynecomastia - blood Gynecomastia - etiology Hormone therapy Hormones Humans Infant Infant, Newborn Luteinizing Hormone - blood Male Males Mammary gland diseases Medical case management Medical sciences Methods Miscellaneous Mutation Neonates Non tumoral diseases Patient outcomes Patients Phenotype Prevention and actions Puberty Public health. Hygiene Public health. Hygiene-occupational medicine Receptors, Androgen - genetics Retrospective Studies Scientific Concepts Sex Hormone-Binding Globulin - metabolism Testosterone Testosterone - blood Young Adult |
| title | Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-14T03%3A15%3A38IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Male%20patients%20with%20partial%20androgen%20insensitivity%20syndrome:%20a%20longitudinal%20follow-up%20of%20growth,%20reproductive%20hormones%20and%20the%20development%20of%20gynaecomastia&rft.jtitle=Archives%20of%20disease%20in%20childhood&rft.au=Hellmann,%20Philip&rft.date=2012-05-01&rft.volume=97&rft.issue=5&rft.spage=403&rft.epage=409&rft.pages=403-409&rft.issn=0003-9888&rft.eissn=1468-2044&rft.coden=ADCHAK&rft_id=info:doi/10.1136/archdischild-2011-300584&rft_dat=%3Cgale_proqu%3EA296515292%3C/gale_proqu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1828840675&rft_id=info:pmid/22412043&rft_galeid=A296515292&rfr_iscdi=true |