A girl with Hajdu-Cheney syndrome and premature ovarian failure
Hajdu-Cheney syndrome is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, dental anomalies, and a proportionate short stature. The pubertal development of children with Hajdu-Cheney syndrome...
Gespeichert in:
| Veröffentlicht in: | Journal of Pediatric Endocrinology and Metabolism 2012-02, Vol.25 (1-2), p.171-173 |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 173 |
|---|---|
| container_issue | 1-2 |
| container_start_page | 171 |
| container_title | Journal of Pediatric Endocrinology and Metabolism |
| container_volume | 25 |
| creator | Nozaki, Takafumi Ihara, Kenji Makimura, Mika Kinjo, Tadamune Hara, Toshiro |
| description | Hajdu-Cheney syndrome is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, dental anomalies, and a proportionate short stature. The pubertal development of children with Hajdu-Cheney syndrome is usually normal in the literature, although we here first describe a girl who was found to have Hajdu-Cheney syndrome accompanied with premature ovarian failure. She showed a follicle-stimulating hormone-dominant response on luteinizing hormone-releasing hormone test and did not show any sex differentiation abnormality or adrenal steroid hormone deficiency. On the basis of the findings in our patient, premature ovarian failure may be a complication of Hajdu-Cheney syndrome and thus an early endocrinological evaluation of patients is important. |
| doi_str_mv | 10.1515/jpem-2011-0443 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1012747640</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1012747640</sourcerecordid><originalsourceid>FETCH-LOGICAL-c388t-74780a26efd2830c36b6f4156b8a72296208982272e8681284a1b3a436e8316e3</originalsourceid><addsrcrecordid>eNp1kU1PAjEQhhujEYJcPZo9elnstN1uuWgMiphgDAkm3prCzsLifmC7K_LvLYLcPM1M8vSdzFNCLoH2IILoZrXGImQUIKRC8BPSZtD3PYvglLQp5yKkoN5bpOvcilIKFDhE_Jy0GIti2o-hTe7ug0Vm82CT1ctgZFZJEw6WWOI2cNsysVWBgSmTYG2xMHVjMai-jM1MGaQmy_18Qc5SkzvsHmqHvA0fp4NROH59eh7cj8M5V6oOYxErapjENGGK0zmXM5kKiORMmZixvmRU9RVjMUMlFTAlDMy4EVyi4iCRd8j1Pndtq88GXa2LzM0xz02JVeO0v435JVJQj_b26NxWzllM9dpmhbFbD-mdN73zpnfe9M6bf3B1yG5mBSZH_M-SB273wMbkNdoEF7bZ-kavqsaW_ux_kv1HaAa_AeE-IHM1fh8XGPuhZczjSE-mQr9MHsRwPB1ryX8AYeaJuQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1012747640</pqid></control><display><type>article</type><title>A girl with Hajdu-Cheney syndrome and premature ovarian failure</title><source>MEDLINE</source><source>De Gruyter journals</source><creator>Nozaki, Takafumi ; Ihara, Kenji ; Makimura, Mika ; Kinjo, Tadamune ; Hara, Toshiro</creator><creatorcontrib>Nozaki, Takafumi ; Ihara, Kenji ; Makimura, Mika ; Kinjo, Tadamune ; Hara, Toshiro</creatorcontrib><description>Hajdu-Cheney syndrome is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, dental anomalies, and a proportionate short stature. The pubertal development of children with Hajdu-Cheney syndrome is usually normal in the literature, although we here first describe a girl who was found to have Hajdu-Cheney syndrome accompanied with premature ovarian failure. She showed a follicle-stimulating hormone-dominant response on luteinizing hormone-releasing hormone test and did not show any sex differentiation abnormality or adrenal steroid hormone deficiency. On the basis of the findings in our patient, premature ovarian failure may be a complication of Hajdu-Cheney syndrome and thus an early endocrinological evaluation of patients is important.</description><identifier>ISSN: 0334-018X</identifier><identifier>EISSN: 2191-0251</identifier><identifier>DOI: 10.1515/jpem-2011-0443</identifier><identifier>PMID: 22570971</identifier><language>eng</language><publisher>Germany: Walter de Gruyter</publisher><subject>Female ; Follicle Stimulating Hormone - blood ; Hajdu-Cheney syndrome ; Hajdu-Cheney Syndrome - blood ; Hajdu-Cheney Syndrome - complications ; Humans ; hypergonadotropic hypogonadism ; Infant, Newborn ; premature ovarian failure ; Primary Ovarian Insufficiency - etiology</subject><ispartof>Journal of Pediatric Endocrinology and Metabolism, 2012-02, Vol.25 (1-2), p.171-173</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c388t-74780a26efd2830c36b6f4156b8a72296208982272e8681284a1b3a436e8316e3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.degruyter.com/document/doi/10.1515/jpem-2011-0443/pdf$$EPDF$$P50$$Gwalterdegruyter$$H</linktopdf><linktohtml>$$Uhttps://www.degruyter.com/document/doi/10.1515/jpem-2011-0443/html$$EHTML$$P50$$Gwalterdegruyter$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,66500,68284</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22570971$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nozaki, Takafumi</creatorcontrib><creatorcontrib>Ihara, Kenji</creatorcontrib><creatorcontrib>Makimura, Mika</creatorcontrib><creatorcontrib>Kinjo, Tadamune</creatorcontrib><creatorcontrib>Hara, Toshiro</creatorcontrib><title>A girl with Hajdu-Cheney syndrome and premature ovarian failure</title><title>Journal of Pediatric Endocrinology and Metabolism</title><addtitle>Journal of Pediatric Endocrinology and Metabolism</addtitle><description>Hajdu-Cheney syndrome is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, dental anomalies, and a proportionate short stature. The pubertal development of children with Hajdu-Cheney syndrome is usually normal in the literature, although we here first describe a girl who was found to have Hajdu-Cheney syndrome accompanied with premature ovarian failure. She showed a follicle-stimulating hormone-dominant response on luteinizing hormone-releasing hormone test and did not show any sex differentiation abnormality or adrenal steroid hormone deficiency. On the basis of the findings in our patient, premature ovarian failure may be a complication of Hajdu-Cheney syndrome and thus an early endocrinological evaluation of patients is important.</description><subject>Female</subject><subject>Follicle Stimulating Hormone - blood</subject><subject>Hajdu-Cheney syndrome</subject><subject>Hajdu-Cheney Syndrome - blood</subject><subject>Hajdu-Cheney Syndrome - complications</subject><subject>Humans</subject><subject>hypergonadotropic hypogonadism</subject><subject>Infant, Newborn</subject><subject>premature ovarian failure</subject><subject>Primary Ovarian Insufficiency - etiology</subject><issn>0334-018X</issn><issn>2191-0251</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kU1PAjEQhhujEYJcPZo9elnstN1uuWgMiphgDAkm3prCzsLifmC7K_LvLYLcPM1M8vSdzFNCLoH2IILoZrXGImQUIKRC8BPSZtD3PYvglLQp5yKkoN5bpOvcilIKFDhE_Jy0GIti2o-hTe7ug0Vm82CT1ctgZFZJEw6WWOI2cNsysVWBgSmTYG2xMHVjMai-jM1MGaQmy_18Qc5SkzvsHmqHvA0fp4NROH59eh7cj8M5V6oOYxErapjENGGK0zmXM5kKiORMmZixvmRU9RVjMUMlFTAlDMy4EVyi4iCRd8j1Pndtq88GXa2LzM0xz02JVeO0v435JVJQj_b26NxWzllM9dpmhbFbD-mdN73zpnfe9M6bf3B1yG5mBSZH_M-SB273wMbkNdoEF7bZ-kavqsaW_ux_kv1HaAa_AeE-IHM1fh8XGPuhZczjSE-mQr9MHsRwPB1ryX8AYeaJuQ</recordid><startdate>20120201</startdate><enddate>20120201</enddate><creator>Nozaki, Takafumi</creator><creator>Ihara, Kenji</creator><creator>Makimura, Mika</creator><creator>Kinjo, Tadamune</creator><creator>Hara, Toshiro</creator><general>Walter de Gruyter</general><scope>BSCLL</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>7X8</scope></search><sort><creationdate>20120201</creationdate><title>A girl with Hajdu-Cheney syndrome and premature ovarian failure</title><author>Nozaki, Takafumi ; Ihara, Kenji ; Makimura, Mika ; Kinjo, Tadamune ; Hara, Toshiro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c388t-74780a26efd2830c36b6f4156b8a72296208982272e8681284a1b3a436e8316e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Female</topic><topic>Follicle Stimulating Hormone - blood</topic><topic>Hajdu-Cheney syndrome</topic><topic>Hajdu-Cheney Syndrome - blood</topic><topic>Hajdu-Cheney Syndrome - complications</topic><topic>Humans</topic><topic>hypergonadotropic hypogonadism</topic><topic>Infant, Newborn</topic><topic>premature ovarian failure</topic><topic>Primary Ovarian Insufficiency - etiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nozaki, Takafumi</creatorcontrib><creatorcontrib>Ihara, Kenji</creatorcontrib><creatorcontrib>Makimura, Mika</creatorcontrib><creatorcontrib>Kinjo, Tadamune</creatorcontrib><creatorcontrib>Hara, Toshiro</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of Pediatric Endocrinology and Metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nozaki, Takafumi</au><au>Ihara, Kenji</au><au>Makimura, Mika</au><au>Kinjo, Tadamune</au><au>Hara, Toshiro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A girl with Hajdu-Cheney syndrome and premature ovarian failure</atitle><jtitle>Journal of Pediatric Endocrinology and Metabolism</jtitle><addtitle>Journal of Pediatric Endocrinology and Metabolism</addtitle><date>2012-02-01</date><risdate>2012</risdate><volume>25</volume><issue>1-2</issue><spage>171</spage><epage>173</epage><pages>171-173</pages><issn>0334-018X</issn><eissn>2191-0251</eissn><abstract>Hajdu-Cheney syndrome is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, dental anomalies, and a proportionate short stature. The pubertal development of children with Hajdu-Cheney syndrome is usually normal in the literature, although we here first describe a girl who was found to have Hajdu-Cheney syndrome accompanied with premature ovarian failure. She showed a follicle-stimulating hormone-dominant response on luteinizing hormone-releasing hormone test and did not show any sex differentiation abnormality or adrenal steroid hormone deficiency. On the basis of the findings in our patient, premature ovarian failure may be a complication of Hajdu-Cheney syndrome and thus an early endocrinological evaluation of patients is important.</abstract><cop>Germany</cop><pub>Walter de Gruyter</pub><pmid>22570971</pmid><doi>10.1515/jpem-2011-0443</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0334-018X |
| ispartof | Journal of Pediatric Endocrinology and Metabolism, 2012-02, Vol.25 (1-2), p.171-173 |
| issn | 0334-018X 2191-0251 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1012747640 |
| source | MEDLINE; De Gruyter journals |
| subjects | Female Follicle Stimulating Hormone - blood Hajdu-Cheney syndrome Hajdu-Cheney Syndrome - blood Hajdu-Cheney Syndrome - complications Humans hypergonadotropic hypogonadism Infant, Newborn premature ovarian failure Primary Ovarian Insufficiency - etiology |
| title | A girl with Hajdu-Cheney syndrome and premature ovarian failure |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-24T19%3A22%3A00IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20girl%20with%20Hajdu-Cheney%20syndrome%20and%20premature%20ovarian%20failure&rft.jtitle=Journal%20of%20Pediatric%20Endocrinology%20and%20Metabolism&rft.au=Nozaki,%20Takafumi&rft.date=2012-02-01&rft.volume=25&rft.issue=1-2&rft.spage=171&rft.epage=173&rft.pages=171-173&rft.issn=0334-018X&rft.eissn=2191-0251&rft_id=info:doi/10.1515/jpem-2011-0443&rft_dat=%3Cproquest_cross%3E1012747640%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1012747640&rft_id=info:pmid/22570971&rfr_iscdi=true |