Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome
-
Judith S. Renes
,
Jeroen Knijnenburg
Abstract
Background
Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. Patients with PJS can develop large calcifying Sertoli cell tumors (LCSTs).
Case presentation
A patient presented at 3 years of age with delayed development, hypermobility and later also with tall stature and advanced bone age. Extensive endocrine evaluation, mutation analysis of genes associated with connective tissue disorders and a single nucleotide polymorphism (SNP) array showed no abnormalities. At 8 years of age, gynecomastia developed as well as pigmentations on the lips, both of which are associated with PJS. Mutation analysis showed a heterozygous deletion of the whole STK11 gene confirming PJS. Testicular ultrasound confirmed the presence of LCSTs. Interestingly, the previously performed SNP array did not report deletion of the STK11 gene.
Conclusions
We advise excluding LCSTs in children with tall stature and advanced bone age where more common causes have been eliminated. Although STK11 deletions are documented in control databases, reporting the deletion of this gene even in the absence of a phenotype is advised for patient management.
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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©2018 Walter de Gruyter GmbH, Berlin/Boston
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- Case Reports
- Multi-disciplinary evaluation of a 5-month-old with hypertrophic cardiomyopathy related to a functional adrenocortical tumor
- A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma
- Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome
Articles in the same Issue
- Frontmatter
- Original Articles
- Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)
- Assessment of dental caries and gingival status among a group of type 1 diabetes mellitus and healthy children of South India – a comparative study
- Early adiposity rebound in patients with Prader-Willi syndrome
- Arterial stiffness as a measure of cardiovascular risk in obese adolescents and adolescents with diabetes type 1
- Dysregulated glucose homeostasis in congenital central hypoventilation syndrome
- Do parents of children with metabolic diseases benefit from the Triple P – Positive Parenting Program? A pilot study
- Early higher dosage of alglucosidase alpha in classic Pompe disease
- Insulin resistance in children with familial hyperlipidemia
- Insulin resistance linked to subtle myocardial dysfunction in normotensive Turner syndrome young patients without structural heart diseases
- Acetylcholinesterase activity and bone biochemical markers in premature and full-term neonates
- Baseline characteristics of gender dysphoric youth
- Case Reports
- Multi-disciplinary evaluation of a 5-month-old with hypertrophic cardiomyopathy related to a functional adrenocortical tumor
- A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma
- Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome
