Familial hypergonadotrophic hypogonadism with partial dysplasia of skin appendages: a new autosomal recessive syndrome

ABSTRACT

Two sisters are described with premature gonadal failure, partial dysplasia of some skin appendages and normal chromosomal constitution. They were shown to have primary hypogonadism similar to that of gonadal dysgenesis XX type. A brother had clinical, endocrinological and histopathological features similar to those attributed to the Sertoli Cell Only Syndrome. Another brother and four sisters were normal adults whilst a third brother was pre-pubertal and normal