Concomitant occurrence of Turner syndrome and growth hormone deficiency
Identifieur interne : 001247 ( Main/Exploration ); précédent : 001246; suivant : 001248Concomitant occurrence of Turner syndrome and growth hormone deficiency
Auteurs : Jung Yu [Corée du Sud] ; Ha Young Shin [Corée du Sud] ; Chong Guk Lee [Corée du Sud] ; Jae Hyun Kim [Corée du Sud]Source :
- Korean Journal of Pediatrics [ 1738-1061 ] ; 2016.
Abstract
Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.
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DOI: 10.3345/kjp.2016.59.11.S121
PubMed: 28018463
PubMed Central: 5177693
Affiliations:
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Shin</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea><wicri:noRegion>Goyang</wicri:noRegion></affiliation></author><author><name sortKey="Lee, Chong Guk" sort="Lee, Chong Guk" uniqKey="Lee C" first="Chong Guk" last="Lee">Chong Guk Lee</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea><wicri:noRegion>Goyang</wicri:noRegion></affiliation></author><author><name sortKey="Kim, Jae Hyun" sort="Kim, Jae Hyun" uniqKey="Kim J" first="Jae Hyun" last="Kim">Jae Hyun Kim</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea><wicri:noRegion>Goyang</wicri:noRegion></affiliation></author></analytic><series><title level="j">Korean Journal of Pediatrics</title><idno type="ISSN">1738-1061</idno><idno type="eISSN">2092-7258</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Sybert, Vp" uniqKey="Sybert V">VP Sybert</name></author><author><name sortKey="Mccauley, E" uniqKey="Mccauley E">E McCauley</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gravholt, Ch" uniqKey="Gravholt C">CH Gravholt</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bondy, Ca" uniqKey="Bondy C">CA Bondy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yeo, Cy" uniqKey="Yeo C">CY Yeo</name></author><author><name sortKey="Kim, Cj" uniqKey="Kim C">CJ Kim</name></author><author><name sortKey="Woo, Yj" uniqKey="Woo Y">YJ Woo</name></author><author><name 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uniqKey="Shin H" first="Ha Young" last="Shin">Ha Young Shin</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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