Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review
Turner syndrome (TS) is a genetic disorder with phenotypic heterogeneity caused by the monosomy or structural abnormalities of the X chromosome, and it has a prevalence of about 1/2500 females live birth. The variable clinical features of TS include short stature, gonadal failure, and skeletal dyspl...
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MDPI AG
2020-10-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/10/10/783 |
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| author | Eu Gene Park Eun-Jung Kim Eun-Jee Kim Hyun-Young Kim Sun-Hee Kim Aram Yang |
| author_facet | Eu Gene Park Eun-Jung Kim Eun-Jee Kim Hyun-Young Kim Sun-Hee Kim Aram Yang |
| author_sort | Eu Gene Park |
| collection | DOAJ |
| description | Turner syndrome (TS) is a genetic disorder with phenotypic heterogeneity caused by the monosomy or structural abnormalities of the X chromosome, and it has a prevalence of about 1/2500 females live birth. The variable clinical features of TS include short stature, gonadal failure, and skeletal dysplasia. The association with growth hormone (GH) deficiency or other hypopituitarism in TS is extremely rare, with only a few case reports published in the literature. Here, we report the first case of a patient with mosaic TS with complete GH deficiency and pituitary microadenoma, and we include the literature review. During the work-up of the patient for severe short stature, three GH provocation tests revealed peak GH levels of less than 5 ng/mL, which was compatible with complete GH deficiency. Sella magnetic resonance imaging showed an 8 mm non-enhancing pituitary adenoma with mild superior displacement of the optic chiasm. Karyotyping revealed the presence of ring chromosome X and monosomy X (46,X,r(X)/45,X/46,X,psu dic r(X;X)), which indicated a mosaic TS. It is important to consider not only chromosome analyses in females with short stature, but also the possibility of the coexistence of complete GH deficiency accompanying pituitary lesions in TS. In conclusion, the present study reports the first case of GH deficiency and pituitary adenoma in a patient with rare mosaic TS, which extends the genotype–phenotype spectrum for TS. |
| first_indexed | 2024-03-10T15:50:39Z |
| format | Article |
| id | doaj.art-57fe5439e4d54009bd4046540827bd7e |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T15:50:39Z |
| publishDate | 2020-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-57fe5439e4d54009bd4046540827bd7e2023-11-20T16:04:01ZengMDPI AGDiagnostics2075-44182020-10-01101078310.3390/diagnostics10100783Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature ReviewEu Gene Park0Eun-Jung Kim1Eun-Jee Kim2Hyun-Young Kim3Sun-Hee Kim4Aram Yang5Department of Pediatrics, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, 56, Dongsu-ro, Bupyeong-gu, Incheon 21431, KoreaSamsung Medical Center, Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, KoreaSamsung Medical Center, Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, KoreaSamsung Medical Center, Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, KoreaSamsung Medical Center, Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, KoreaDepartment of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 29 Saemunan-ro, Jongno-gu, Seoul 03181, KoreaTurner syndrome (TS) is a genetic disorder with phenotypic heterogeneity caused by the monosomy or structural abnormalities of the X chromosome, and it has a prevalence of about 1/2500 females live birth. The variable clinical features of TS include short stature, gonadal failure, and skeletal dysplasia. The association with growth hormone (GH) deficiency or other hypopituitarism in TS is extremely rare, with only a few case reports published in the literature. Here, we report the first case of a patient with mosaic TS with complete GH deficiency and pituitary microadenoma, and we include the literature review. During the work-up of the patient for severe short stature, three GH provocation tests revealed peak GH levels of less than 5 ng/mL, which was compatible with complete GH deficiency. Sella magnetic resonance imaging showed an 8 mm non-enhancing pituitary adenoma with mild superior displacement of the optic chiasm. Karyotyping revealed the presence of ring chromosome X and monosomy X (46,X,r(X)/45,X/46,X,psu dic r(X;X)), which indicated a mosaic TS. It is important to consider not only chromosome analyses in females with short stature, but also the possibility of the coexistence of complete GH deficiency accompanying pituitary lesions in TS. In conclusion, the present study reports the first case of GH deficiency and pituitary adenoma in a patient with rare mosaic TS, which extends the genotype–phenotype spectrum for TS.https://www.mdpi.com/2075-4418/10/10/783Turner syndromemosaicismring chromosomesgrowth hormone deficiencypituitary microadenoma |
| spellingShingle | Eu Gene Park Eun-Jung Kim Eun-Jee Kim Hyun-Young Kim Sun-Hee Kim Aram Yang Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review Diagnostics Turner syndrome mosaicism ring chromosomes growth hormone deficiency pituitary microadenoma |
| title | Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review |
| title_full | Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review |
| title_fullStr | Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review |
| title_full_unstemmed | Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review |
| title_short | Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review |
| title_sort | coexistence of growth hormone deficiency and pituitary microadenoma in a child with unique mosaic turner syndrome a case report and literature review |
| topic | Turner syndrome mosaicism ring chromosomes growth hormone deficiency pituitary microadenoma |
| url | https://www.mdpi.com/2075-4418/10/10/783 |
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