Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years
-
Jessica D. Arditi
,
Loretta Thomaidis
Abstract
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.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Original Articles
- High prevalence of organ specific autoantibodies in Indian type 1 diabetic patients
- Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
- Excessive weight gain in exclusively breast-fed infants
- Comparison of Tanner staging of HIV-infected and uninfected girls at the University of Nigeria Teaching Hospital, Ituku/Ozalla, Enugu, Nigeria
- Joint association of screen time and physical activity with anthropometric measures in Iranian children and adolescents: the weight disorders survey of the CASPIAN-IV study
- Assessment of insulin like growth factor-1 and IGF binding protein-3 in healthy Indian girls from Delhi and their correlation with age, pubertal status, obesity and thyroid hormonal status
- Impact of discontinuation of growth hormone treatment on lipids and weight status in adolescents
- Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
- A combined approach to generate laboratory reference intervals using unbalanced longitudinal data
- Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases
- Case Reports
- Pediatric toxic polycystic thyroid
- In utero virilization secondary to a maternal Krukenberg tumor: case report and review of literature
- Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction
- Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years
Articles in the same Issue
- Frontmatter
- Original Articles
- High prevalence of organ specific autoantibodies in Indian type 1 diabetic patients
- Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
- Excessive weight gain in exclusively breast-fed infants
- Comparison of Tanner staging of HIV-infected and uninfected girls at the University of Nigeria Teaching Hospital, Ituku/Ozalla, Enugu, Nigeria
- Joint association of screen time and physical activity with anthropometric measures in Iranian children and adolescents: the weight disorders survey of the CASPIAN-IV study
- Assessment of insulin like growth factor-1 and IGF binding protein-3 in healthy Indian girls from Delhi and their correlation with age, pubertal status, obesity and thyroid hormonal status
- Impact of discontinuation of growth hormone treatment on lipids and weight status in adolescents
- Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
- A combined approach to generate laboratory reference intervals using unbalanced longitudinal data
- Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases
- Case Reports
- Pediatric toxic polycystic thyroid
- In utero virilization secondary to a maternal Krukenberg tumor: case report and review of literature
- Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction
- Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years
