Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?

Anumber of syndromes have been described in which hypogonadotrophic hypogonadism is associated with multiple somatic and neurological anomalies such as tall stature, anosmia, ataxia, mental retardation, and choroidal dystrophy. The large number of syndromes indicates the considerable clinical heterogeneity associated with hypogonadotrophic hypogonadism. In this report, we describe an unusual constellation of neuroendocrinological findings in an Arab family with three affected sibs. A major finding is hypogonadotrophic hypogonadism associated with short stature owing to gonadotrophic and somatotrophic cellular dysfunction in the anterior pituitary. Although, we discuss several possible modes of inheritance, we speculate that the mode of inheritance of this disorder in this family is autosomal recessive.