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[Multiple endocrine neoplasias in 3 generations].

A Hübner¹, A M Holschneider

¹Kinderklinik Riehl, Chirurgische Abteilung, Köln.

Langenbecks Archiv Fur Chirurgie

|January 1, 1987

Summary

Multiple endocrine neoplasia type IIc (MEN IIc) may represent a distinct subtype of MEN II, characterized by autosomal inheritance and unique phenotypic variations, differing from MEN IIb.

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Area of Science:

Endocrinology and Genetics
Rare genetic disorders
Multiple Endocrine Neoplasia (MEN) syndromes

Background:

Multiple Endocrine Neoplasia type IIb (MEN IIb) typically presents with medullary thyroid carcinoma, pheochromocytoma, and specific neurocutaneous/skeletal anomalies.
MEN II syndromes are inherited endocrine tumor predisposition disorders with varying clinical manifestations.

Observation:

Two patients from a single family with MEN II were studied.
The family exhibited autosomal inheritance with high penetrance and variable expressivity across generations.
Key differences from MEN IIb included the absence of Marfanoid habitus and megacolon predominantly affecting males.

Findings:

The observed pattern suggests a potential new variant, possibly MEN IIc.
Autosomal inheritance with high penetrance was confirmed.
Phenotypic variability included the absence of typical MEN IIb features and sex-limited expression of megacolon.

Implications:

Recognition of MEN IIc could refine diagnostic criteria and genetic counseling for MEN II families.
Further research is needed to confirm MEN IIc as a distinct subtype and understand its genetic basis.
Understanding phenotypic variations is crucial for accurate diagnosis and management of MEN syndromes.

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