What question did this study set out to answer?

Evaluate the clinical presentation of a rare heterozygous PCSK1 deficiency in an adolescent male.

March 4, 2026Open Access

Rare Presentation of Heterozygous PCSK1 Deficiency in an Adolescent Male.

Key Points

Evaluate the clinical presentation of a rare heterozygous PCSK1 deficiency in an adolescent male.
Case study analysis of a male with heterozygous PCSK1 variant.
Assessment of clinical symptoms and laboratory results, including HbA1c and LDL levels.
Patient exhibited hyperphagia and significant obesity despite normal metabolic markers.
Clinical presentation differs from homozygous cases, emphasizing a wider spectrum of PCSK1 deficiencies.

Abstract

This case of a heterozygous PCSK1 variant may demonstrate an association between this variant and the patient's clinical presentation, possibly expanding the known clinical spectrum of the disorder beyond the previously reported presentations in homozygous cases. Our case may show how heterozygous presentations with this variant of PCSK1 deficiency demonstrate a different presentation from the homozygous phenotype in younger patients. This patient shows that PCSK1 abnormalities could have an association with individuals who have hyperphagia and significant obesity, but normal HbA1c and LDL levels. Additional studies could be considered to evaluate prevalence in the population, long-term outcomes, and targeted therapies.

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