Isolated follicle-stimulating hormone deficiency in a woman with X chromosomal mosaicism
Primary amenorrhea was observed in a 40-year-old woman with a proportionate female habitus. Serum levels of luteinizing hormone (LH) (71 to 97 mlU/ml) and estradiol (
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| Veröffentlicht in: | American journal of obstetrics and gynecology 1982-11, Vol.144 (5), p.601-607 |
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| container_title | American journal of obstetrics and gynecology |
| container_volume | 144 |
| creator | Schmidt, Cecilia L. Epstein, Jeanne A. Sarosi, Peter Wolman, Sandra R. Weiss, Gerson |
| description | Primary amenorrhea was observed in a 40-year-old woman with a proportionate female habitus. Serum levels of luteinizing hormone (LH) (71 to 97 mlU/ml) and estradiol ( |
| doi_str_mv | 10.1016/0002-9378(82)90234-4 |
| format | Article |
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Serum levels of luteinizing hormone (LH) (71 to 97 mlU/ml) and estradiol (<10 pg/ml) were in the postmenopausal range, while follicle-stimulating hormone (FSH) remained at the lower limit of detection (1 to 6 mlU/ml). LH was found to be biologically active in a mouse Leydig cell testosterone production assay. Chromosomal analysis revealed three major cell lines: 5% 45,X; 83% 46,XX; and 3% 47,XXX. The remaining cells showed apparently random aneuploidy and chromosome rearrangements. Intravenous administration of 150 μg of gonadotropin-releasing hormone produced a threefold elevation in LH but did not alter FSH levels. Review of ovarian biopsies performed at age 22 revealed a multitude of primordial follicles and one follicle with antrum formation. There was no evidence of recent or past ovulation. An insulin tolerance test evoked normal responses in serum growth hormone, prolactin, and cortisol. This is the first reported case of an isolated deficiency of FSH associated with mosaicism of the X chromosome. This coexistence of functional and genetic aberrations suggests that the differential secretion of LH and FSH may be related to specific independent loci on the X chromosome.</description><identifier>ISSN: 0002-9378</identifier><identifier>EISSN: 1097-6868</identifier><identifier>DOI: 10.1016/0002-9378(82)90234-4</identifier><identifier>PMID: 6814256</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Amenorrhea - etiology ; Estradiol - blood ; Female ; Follicle Stimulating Hormone - blood ; Follicle Stimulating Hormone - deficiency ; Glucose Tolerance Test ; Humans ; Luteinizing Hormone - blood ; Mosaicism ; X Chromosome</subject><ispartof>American journal of obstetrics and gynecology, 1982-11, Vol.144 (5), p.601-607</ispartof><rights>1982</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c357t-92f1cb52e91eaa0e85dfc248ff62c64fcd72e31fdde1db4c414a1ac295827da23</citedby><cites>FETCH-LOGICAL-c357t-92f1cb52e91eaa0e85dfc248ff62c64fcd72e31fdde1db4c414a1ac295827da23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/0002-9378(82)90234-4$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3536,27903,27904,45974</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6814256$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schmidt, Cecilia L.</creatorcontrib><creatorcontrib>Epstein, Jeanne A.</creatorcontrib><creatorcontrib>Sarosi, Peter</creatorcontrib><creatorcontrib>Wolman, Sandra R.</creatorcontrib><creatorcontrib>Weiss, Gerson</creatorcontrib><title>Isolated follicle-stimulating hormone deficiency in a woman with X chromosomal mosaicism</title><title>American journal of obstetrics and gynecology</title><addtitle>Am J Obstet Gynecol</addtitle><description>Primary amenorrhea was observed in a 40-year-old woman with a proportionate female habitus. Serum levels of luteinizing hormone (LH) (71 to 97 mlU/ml) and estradiol (<10 pg/ml) were in the postmenopausal range, while follicle-stimulating hormone (FSH) remained at the lower limit of detection (1 to 6 mlU/ml). LH was found to be biologically active in a mouse Leydig cell testosterone production assay. Chromosomal analysis revealed three major cell lines: 5% 45,X; 83% 46,XX; and 3% 47,XXX. The remaining cells showed apparently random aneuploidy and chromosome rearrangements. Intravenous administration of 150 μg of gonadotropin-releasing hormone produced a threefold elevation in LH but did not alter FSH levels. Review of ovarian biopsies performed at age 22 revealed a multitude of primordial follicles and one follicle with antrum formation. There was no evidence of recent or past ovulation. An insulin tolerance test evoked normal responses in serum growth hormone, prolactin, and cortisol. This is the first reported case of an isolated deficiency of FSH associated with mosaicism of the X chromosome. This coexistence of functional and genetic aberrations suggests that the differential secretion of LH and FSH may be related to specific independent loci on the X chromosome.</description><subject>Adult</subject><subject>Amenorrhea - etiology</subject><subject>Estradiol - blood</subject><subject>Female</subject><subject>Follicle Stimulating Hormone - blood</subject><subject>Follicle Stimulating Hormone - deficiency</subject><subject>Glucose Tolerance Test</subject><subject>Humans</subject><subject>Luteinizing Hormone - blood</subject><subject>Mosaicism</subject><subject>X Chromosome</subject><issn>0002-9378</issn><issn>1097-6868</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1982</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1LxDAQhoMoun78A4WcRA_VZJq26UUQ8QsELwreQjaZuJG20aSr-O9N3cWjp5eZ950Z5iHkkLMzznh9zhiDoi0beSLhtGVQikJskBlnbVPUspabZPYX2SG7Kb1NJbSwTbZryQVU9Yy83KfQ6REtdaHrvOmwSKPvl7nnh1e6CLEPA1KLzhuPg_mmfqCafoVeD_TLjwv6Qs0ihj6k3OpoVp2Tqd8nW053CQ_Wukeeb66fru6Kh8fb-6vLh8KUVTMWLThu5hVgy1FrhrKyzoCQztVgauGMbQBL7qxFbufCCC401wbaSkJjNZR75Hi19z2GjyWmUfU-Gew6PWBYJtUIkA0Az0GxCpoYUoro1Hv0vY7fijM1AVUTHjXRUjLrBFSJPHa03r-c92j_htYEs3-x8jE_-ekxqvQLCq2PaEZlg___wA_UQYax</recordid><startdate>19821101</startdate><enddate>19821101</enddate><creator>Schmidt, Cecilia L.</creator><creator>Epstein, Jeanne A.</creator><creator>Sarosi, Peter</creator><creator>Wolman, Sandra R.</creator><creator>Weiss, Gerson</creator><general>Elsevier Inc</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>7X8</scope></search><sort><creationdate>19821101</creationdate><title>Isolated follicle-stimulating hormone deficiency in a woman with X chromosomal mosaicism</title><author>Schmidt, Cecilia L. ; Epstein, Jeanne A. ; Sarosi, Peter ; Wolman, Sandra R. ; Weiss, Gerson</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c357t-92f1cb52e91eaa0e85dfc248ff62c64fcd72e31fdde1db4c414a1ac295827da23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1982</creationdate><topic>Adult</topic><topic>Amenorrhea - etiology</topic><topic>Estradiol - blood</topic><topic>Female</topic><topic>Follicle Stimulating Hormone - blood</topic><topic>Follicle Stimulating Hormone - deficiency</topic><topic>Glucose Tolerance Test</topic><topic>Humans</topic><topic>Luteinizing Hormone - blood</topic><topic>Mosaicism</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schmidt, Cecilia L.</creatorcontrib><creatorcontrib>Epstein, Jeanne A.</creatorcontrib><creatorcontrib>Sarosi, Peter</creatorcontrib><creatorcontrib>Wolman, Sandra R.</creatorcontrib><creatorcontrib>Weiss, Gerson</creatorcontrib><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>American journal of obstetrics and gynecology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schmidt, Cecilia L.</au><au>Epstein, Jeanne A.</au><au>Sarosi, Peter</au><au>Wolman, Sandra R.</au><au>Weiss, Gerson</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Isolated follicle-stimulating hormone deficiency in a woman with X chromosomal mosaicism</atitle><jtitle>American journal of obstetrics and gynecology</jtitle><addtitle>Am J Obstet Gynecol</addtitle><date>1982-11-01</date><risdate>1982</risdate><volume>144</volume><issue>5</issue><spage>601</spage><epage>607</epage><pages>601-607</pages><issn>0002-9378</issn><eissn>1097-6868</eissn><abstract>Primary amenorrhea was observed in a 40-year-old woman with a proportionate female habitus. Serum levels of luteinizing hormone (LH) (71 to 97 mlU/ml) and estradiol (<10 pg/ml) were in the postmenopausal range, while follicle-stimulating hormone (FSH) remained at the lower limit of detection (1 to 6 mlU/ml). LH was found to be biologically active in a mouse Leydig cell testosterone production assay. Chromosomal analysis revealed three major cell lines: 5% 45,X; 83% 46,XX; and 3% 47,XXX. The remaining cells showed apparently random aneuploidy and chromosome rearrangements. Intravenous administration of 150 μg of gonadotropin-releasing hormone produced a threefold elevation in LH but did not alter FSH levels. Review of ovarian biopsies performed at age 22 revealed a multitude of primordial follicles and one follicle with antrum formation. There was no evidence of recent or past ovulation. An insulin tolerance test evoked normal responses in serum growth hormone, prolactin, and cortisol. This is the first reported case of an isolated deficiency of FSH associated with mosaicism of the X chromosome. This coexistence of functional and genetic aberrations suggests that the differential secretion of LH and FSH may be related to specific independent loci on the X chromosome.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>6814256</pmid><doi>10.1016/0002-9378(82)90234-4</doi><tpages>7</tpages></addata></record> |
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| identifier | ISSN: 0002-9378 |
| ispartof | American journal of obstetrics and gynecology, 1982-11, Vol.144 (5), p.601-607 |
| issn | 0002-9378 1097-6868 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adult Amenorrhea - etiology Estradiol - blood Female Follicle Stimulating Hormone - blood Follicle Stimulating Hormone - deficiency Glucose Tolerance Test Humans Luteinizing Hormone - blood Mosaicism X Chromosome |
| title | Isolated follicle-stimulating hormone deficiency in a woman with X chromosomal mosaicism |
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