Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years
| Autor: | Christina Kanaka-Gantenbein, Loretta Thomaidis, Artemis Doulgeraki, George P. Chrousos, Helen Frysira, Jessica Arditi |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty 030219 obstetrics & reproductive medicine business.industry Pediatric endocrinology Endocrinology Diabetes and Metabolism Aneuploidy Chromosome Disorder medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Endocrinology Normal Virilization Dysplasia Pediatrics Perinatology and Child Health medicine Endocrine system Klinefelter syndrome Achondroplasia business |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 30 |
| ISSN: | 2191-0251 0334-018X |
| DOI: | 10.1515/jpem-2016-0362 |
| Popis: | Background Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood. Case presentation We report a male patient with ACH and KS, diagnosed in early infancy because of his typical phenotype of ACH. The diagnosis was confirmed by molecular analysis revealing a de novo heterozygous 1138 G-to-A mutation of the FGFR3 gene. During his first assessment, a karyotype was performed, which also revealed coexistence of KS. He was followed by our pediatric endocrinology team until the age of 16 years, then he was gradually transferred to adult endocrine care. Conclusions This is the first reported case with both conditions that was diagnosed in infancy and was longitudinally followed by a pediatric endocrinology team regularly, from infancy to late adolescence. With a typical phenotype of ACH, it is striking and noteworthy that he did not develop the classical endocrine complications of a child with KS, neither did he necessitate testosterone supplementation during his pubertal development, due to his normal virilization and testosterone levels. |
| Databáze: | OpenAIRE |
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