Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report
Genetic tests have led to the discovery of many novel genetic variants related to growth failure, but the clinical significance of some results is not always easy to establish. The aim of this report is to describe both clinical phenotype and genetic characteristics in an adult patient with short st...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-07-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/13/13/2259 |
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| author | Betina Biagetti Irene Valenzuela Ariadna Campos-Martorell Berta Campos Sara Hernandez Marina Giralt Noelia Díaz-Troyano Emilio Iniesta-Serrano Diego Yeste Rafael Simó |
| author_facet | Betina Biagetti Irene Valenzuela Ariadna Campos-Martorell Berta Campos Sara Hernandez Marina Giralt Noelia Díaz-Troyano Emilio Iniesta-Serrano Diego Yeste Rafael Simó |
| author_sort | Betina Biagetti |
| collection | DOAJ |
| description | Genetic tests have led to the discovery of many novel genetic variants related to growth failure, but the clinical significance of some results is not always easy to establish. The aim of this report is to describe both clinical phenotype and genetic characteristics in an adult patient with short stature associated with a homozygous variant in disintegrin and metalloproteinase with thrombospondin motifs type 17 gene (<i>ADAMTS17</i>) combined with a homozygous variant in the GH secretagogue receptor (<i>GHS-R</i>). The index case had severe short stature (SS) (−3.0 SD), small hands and feet, associated with eye disturbances. Genetic tests revealed homozygous compounds for <i>ADAMTS17</i> responsible for Weill–Marchesani-like syndrome but a homozygous variant in <i>GHS-R</i> was also detected. Dynamic stimulation with an insulin tolerance test showed a normal elevation of GH, while the GH response to macimorelin stimulus was totally flattened. We show the implication of the <i>GHS-R</i> variant and review the molecular mechanisms of both entities. These results allowed us to better interpret the phenotypic spectrum, associated co-morbidities, its implications in dynamic tests, genetic counselling and treatment options not only to the index case but also for her relatives. |
| first_indexed | 2024-03-11T01:44:08Z |
| format | Article |
| id | doaj.art-8f63673b4573472290fc26efb38110ce |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-11T01:44:08Z |
| publishDate | 2023-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-8f63673b4573472290fc26efb38110ce2023-11-18T16:22:14ZengMDPI AGDiagnostics2075-44182023-07-011313225910.3390/diagnostics13132259Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case ReportBetina Biagetti0Irene Valenzuela1Ariadna Campos-Martorell2Berta Campos3Sara Hernandez4Marina Giralt5Noelia Díaz-Troyano6Emilio Iniesta-Serrano7Diego Yeste8Rafael Simó9Endocrinology Department, Diabetes and Metabolism Research Unit, Vall d’Hebron University Hospital and Vall d’Hebron Research Institute (VHIR), Universidad Autónoma de Barcelona, Reference Networks (ERN), 08035 Barcelona, SpainDepartment of Clinical and Molecular Genetics and Rare Disease Unit and Medicine Genetics Group, Vall Hebron Research Institute, 08035 Barcelona, SpainPediatric Endocrinology Section, Vall d’Hebron University Hospital and Vall d’Hebron Research Institute (VHIR), Universidad Autónoma de Barcelona, 08193 Barcelona, SpainDepartment of Clinical and Molecular Genetics and Rare Disease Unit and Medicine Genetics Group, Vall Hebron Research Institute, 08035 Barcelona, SpainPediatric Endocrinology Section, Vall d’Hebron University Hospital and Vall d’Hebron Research Institute (VHIR), Universidad Autónoma de Barcelona, 08193 Barcelona, SpainDepartment of Biochemistry, Vall d’Hebron University Hospital, 08035 Barcelona, SpainDepartment of Biochemistry, Vall d’Hebron University Hospital, 08035 Barcelona, SpainPharmacy Department, Vall d’Hebron University Hospital, 08035 Barcelona, SpainPediatric Endocrinology Section, Vall d’Hebron University Hospital and Vall d’Hebron Research Institute (VHIR), Universidad Autónoma de Barcelona, 08193 Barcelona, SpainEndocrinology Department, Diabetes and Metabolism Research Unit, Vall d’Hebron University Hospital and Vall d’Hebron Research Institute (VHIR), Universidad Autónoma de Barcelona, Reference Networks (ERN), 08035 Barcelona, SpainGenetic tests have led to the discovery of many novel genetic variants related to growth failure, but the clinical significance of some results is not always easy to establish. The aim of this report is to describe both clinical phenotype and genetic characteristics in an adult patient with short stature associated with a homozygous variant in disintegrin and metalloproteinase with thrombospondin motifs type 17 gene (<i>ADAMTS17</i>) combined with a homozygous variant in the GH secretagogue receptor (<i>GHS-R</i>). The index case had severe short stature (SS) (−3.0 SD), small hands and feet, associated with eye disturbances. Genetic tests revealed homozygous compounds for <i>ADAMTS17</i> responsible for Weill–Marchesani-like syndrome but a homozygous variant in <i>GHS-R</i> was also detected. Dynamic stimulation with an insulin tolerance test showed a normal elevation of GH, while the GH response to macimorelin stimulus was totally flattened. We show the implication of the <i>GHS-R</i> variant and review the molecular mechanisms of both entities. These results allowed us to better interpret the phenotypic spectrum, associated co-morbidities, its implications in dynamic tests, genetic counselling and treatment options not only to the index case but also for her relatives.https://www.mdpi.com/2075-4418/13/13/2259short staturegeneticsmacimorelin<i>GHS-R</i><i>ADAMTS</i><i>ADAMTS17</i> |
| spellingShingle | Betina Biagetti Irene Valenzuela Ariadna Campos-Martorell Berta Campos Sara Hernandez Marina Giralt Noelia Díaz-Troyano Emilio Iniesta-Serrano Diego Yeste Rafael Simó Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report Diagnostics short stature genetics macimorelin <i>GHS-R</i> <i>ADAMTS</i> <i>ADAMTS17</i> |
| title | Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report |
| title_full | Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report |
| title_fullStr | Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report |
| title_full_unstemmed | Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report |
| title_short | Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report |
| title_sort | contribution of dynamic and genetic tests for short stature diagnosing a case report |
| topic | short stature genetics macimorelin <i>GHS-R</i> <i>ADAMTS</i> <i>ADAMTS17</i> |
| url | https://www.mdpi.com/2075-4418/13/13/2259 |
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