From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

Heterozygous FOXA2 variant — haploinsufficiency of the Forkhead Box A2 transcription factor essential for pituitary development

A wide phenotypic spectrum is described for FOXA2 variants in a family, ranging from multiple congenital anomalies to pituitary gland malformation. FOXA2 encodes a Forkhead transcription factor essential for pituitary and hypothalamic development; heterozygous variants cause hypopituitarism, diabetes insipidus, and pituitary stalk abnormalities with variable expressivity. This family study illustrates the broad intra-familial clinical range of FOXA2 haploinsufficiency.

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FOXA2 remains a relatively recently implicated disease gene with a limited number of published cases. Each new family description refines the clinical spectrum and improves genetic counseling, particularly regarding expressivity. The association with multiple congenital anomalies beyond the hypothalamo-pituitary axis warrants attention.

Clinical impact : 2/3 · Evidence strength : 2/3 · Novelty : 1/2 · Sample size : 0/1 · Journal quality : 0/1 → Total : 5/10