Abstract
Studies were carried out on a twenty-one year old male subject with the unique combination of hypogonadism, a leukocyte karyotype of 47 XXY, chronic lung disease, dwarfism, microcephaly, hypothyroidism with a circulating iodoprotein, deafness and pancreatic insufficiency. A diagnosis of cystic fibrosis was considered but excluded. This is the first known case of pancreatic insufficiency occurring in association with a chromosomal anomaly.
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