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

OBJECTIVES: Oliver-McFarlane syndrome (OMS) is an extremely rare autosomal recessive disorder primarily characterized by the triad of trichomegaly, congenital hypopituitarism, and chorioretinal degeneration. This study aims to report the clinical and genetic characteristics of the first identified Chinese sibling pair with OMS and to expand the known phenotypic spectrum by documenting a novel clinical feature.

CASE PRESENTATION: We report two Chinese siblings with OMS harboring identical compound heterozygous PNPLA6 variants: c.2990C>T (p.Ser997Leu) and c.3367G>A (p.Gly1123Arg). Both presented with growth hormone deficiency (GHD), short stature, retinitis pigmentosa, and characteristic hair anomalies. Notably, the elder brother exhibited intellectual disability and secondary adrenocortical insufficiency - a feature not previously documented in OMS. In contrast, the younger sister had normal adrenal function and higher cognitive levels. Both patients showed a significant positive growth response to recombinant human growth hormone (rhGH) therapy.

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