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A Novel Method: Super-selective Adrenal Venous Sampling

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Reverse referral: from pathology to endocrinology.

Selma Feldman Witchel¹, Sarangarajan Ranganathan, Megan Kilpatrick

¹Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA, USA. selma.witchel@chp.edu

Endocrine Pathology

|February 12, 2009

Summary

Multiple Endocrine Neoplasia type 1 (MEN1) diagnosis in young patients is challenging. Cutaneous collagenomas can aid in early MEN1 diagnosis and management, as seen in this adolescent case.

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Area of Science:

Endocrinology
Genetics
Dermatology

Background:

Multiple Endocrine Neoplasia type 1 (MEN1) diagnosis presents challenges, particularly in pediatric and young adult populations, due to variable clinical presentations.
Phenotypic heterogeneity within families can further complicate early and accurate diagnosis.

Observation:

An adolescent female presented with numerous cutaneous collagenomas (>70 lesions).
Histological examination confirmed the diagnosis of collagenomas.

Findings:

Genetic sequencing of the MEN1 gene identified a novel nonsense mutation (Y222X).
Endocrine evaluation revealed asymptomatic primary hyperparathyroidism, confirmed as parathyroid hyperplasia during surgery.
The patient was diagnosed with MEN1 following the identification of collagenomas and subsequent endocrine findings.

Implications:

Cutaneous manifestations, such as collagenomas, can serve as crucial early indicators for MEN1 diagnosis.
Prompt recognition of dermatological signs can facilitate timely endocrine assessment and management, improving patient outcomes.
This case highlights the importance of integrating dermatological findings into the diagnostic pathway for MEN1 in younger individuals.