HUM-MOLGEN DIAGnostics/Clinical Research

February, 17 1999
Allgrove syndrome

I would like to know if there are researchers interested in getting DNA from a family here at the Nemours Children's Clinic.

My colleague in endocrinology has asked if there might be a group studying the genes involved with Allgrove syndrome.   (The Triple A syndrome  -- ACTH defect (hereditary adrenocortical unresponsiveness to ACTH), Achalasia, Alacrima, and other neurological abnormalities, including autonomic, sensory, and upper- and lower-motor neuropathy, deafness, and mental retardation.)

The family so far consists of two half-sisters with the same healthy mother. Both have classical ACTH unresponsiveness, one has had severe achalasia requiring intensive GI management.

I am aware of progress on chromosome #12 for this condition. If this family is interested what are specimen requirements, etc.

Thank You

Anthony Perszyk MD
Division of Medical Genetics
Nemours Children's Clinic
807 Nira Street
Jacksonville, Florida USA  32207
TEL#  1-904-390-3726
FAX#  1-904-390-3422