B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

Abstract

The proband (case 1, IV.1, fig 1) is an only child, born to unrelated parents. He was born at term by caesarian section with normal measurements (weight 3620 g, length 50 cm, and OFC 37 cm). Genital anomalies noted at birth included micropenis, scrotal hypospadias, and bilateral cryptorchidism, which required multiple surgical corrections. Despite testosterone substitution therapy, the size of the testes and penis only increased during puberty. Endocrine investigations including basal state testosterone, dihydrotestosterone, adrenal hormones, gonadotrophin plasma levels, gonadotrophin response to LHRH, and testosterone response to HCG were normal. Ultrasonography of the urinary system showed bilateral hydronephrosis.