Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report
Fibroblast growth factor receptors (<i>FGFR</i>s) are expressed in epiphyseal cartilage cells of developing bones and regulate endochondral bone formation with interdependent signaling pathways. Gene mutation in <i>FGFR</i>s disrupts the formation of endochondral bony structu...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-04-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/9/4/547 |
| _version_ | 1797436298551623680 |
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| author | Min Jeong Jang Moon Bae Ahn |
| author_facet | Min Jeong Jang Moon Bae Ahn |
| author_sort | Min Jeong Jang |
| collection | DOAJ |
| description | Fibroblast growth factor receptors (<i>FGFR</i>s) are expressed in epiphyseal cartilage cells of developing bones and regulate endochondral bone formation with interdependent signaling pathways. Gene mutation in <i>FGFR</i>s disrupts the formation of endochondral bony structure by reducing the number of proliferating chondrocytes. Among the syndromes caused by mutation in the <i>FGFR</i> gene, Pfeiffer syndrome is a rare inherited disease characterized by acrocephalosyndactyly related to hypertelorism, broad pollex, and hallux. We describe the case of a 4-year-old girl with short stature, advanced bone age, wide thumbs and great toes. The patient was diagnosed with partial growth hormone deficiency and an identified mutation in the <i>FGFR2</i> gene. Standard deviation score of her height increased after starting growth hormone therapy. This report will raise awareness of the growth hormone provocation test regardless of bone age in patients with short stature founded <i>FGFR</i> gene mutation. |
| first_indexed | 2024-03-09T11:00:37Z |
| format | Article |
| id | doaj.art-d8f6febf281848f4b71e09b6a8548fed |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-09T11:00:37Z |
| publishDate | 2022-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-d8f6febf281848f4b71e09b6a8548fed2023-12-01T01:19:37ZengMDPI AGChildren2227-90672022-04-019454710.3390/children9040547Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case ReportMin Jeong Jang0Moon Bae Ahn1Department of Pediatrics, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, KoreaDepartment of Pediatrics, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, KoreaFibroblast growth factor receptors (<i>FGFR</i>s) are expressed in epiphyseal cartilage cells of developing bones and regulate endochondral bone formation with interdependent signaling pathways. Gene mutation in <i>FGFR</i>s disrupts the formation of endochondral bony structure by reducing the number of proliferating chondrocytes. Among the syndromes caused by mutation in the <i>FGFR</i> gene, Pfeiffer syndrome is a rare inherited disease characterized by acrocephalosyndactyly related to hypertelorism, broad pollex, and hallux. We describe the case of a 4-year-old girl with short stature, advanced bone age, wide thumbs and great toes. The patient was diagnosed with partial growth hormone deficiency and an identified mutation in the <i>FGFR2</i> gene. Standard deviation score of her height increased after starting growth hormone therapy. This report will raise awareness of the growth hormone provocation test regardless of bone age in patients with short stature founded <i>FGFR</i> gene mutation.https://www.mdpi.com/2227-9067/9/4/547Pfeiffer syndromegrowth hormone therapyshort staturefibroblast growth factor |
| spellingShingle | Min Jeong Jang Moon Bae Ahn Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report Children Pfeiffer syndrome growth hormone therapy short stature fibroblast growth factor |
| title | Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report |
| title_full | Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report |
| title_fullStr | Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report |
| title_full_unstemmed | Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report |
| title_short | Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report |
| title_sort | effect of growth hormone therapy on a 4 year old girl with pfeiffer syndrome and short stature a case report |
| topic | Pfeiffer syndrome growth hormone therapy short stature fibroblast growth factor |
| url | https://www.mdpi.com/2227-9067/9/4/547 |
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