New insights into Oliver–McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair

Caiqi Du; Tingting Yu; Sheng Liu; Haian Fu; Aoyu Yang; Heng Zhang; Yan Liang; Xiaoping Luo

doi:10.1515/jpem-2025-0731

March 18, 2026Journal of Pediatric Endocrinology and Metabolism

New insights into Oliver–McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair

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Key Points

The research aims to explore the phenotypic spectrum of PNPLA6-associated Oliver–McFarlane syndrome, particularly focusing on adrenocortical insufficiency.
Investigated a sibling pair diagnosed with Oliver–McFarlane syndrome
Conducted genetic analysis for PNPLA6 mutations
Examined clinical symptoms and family history
Identified adrenocortical insufficiency as a new symptom of OMS
Noted significant variability in symptoms between the siblings
Expanded understanding of the phenotypic expressions associated with PNPLA6 mutations

Implication

Uncovers adrenocortical insufficiency in siblings with Oliver–McFarlane syndrome, suggesting significant variability in the condition.

Abstract

This study expands the phenotypic spectrum of PNPLA6-associated OMS to include adrenocortical insufficiency and highlights significant intrafamilial variability.

Discussion

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Cite This Study

Du et al. (2026) studied this question.

synapsesocial.com/papers/69be35e66e48c4981c67470e https://doi.org/10.1515/jpem-2025-0731

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New insights into Oliver–McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair

Key Points

Implication

Abstract

Discussion

Cite This Study

New insights into Oliver–McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair

Key Points

Implication

Abstract

Discussion

Cite This Study

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