A patient with pituitary growth hormone deficiency and May-Hegglin anomaly: a distinct entity?
Pituitary growth hormone deficiency, associated with the May-Hegglin anomaly in peripheral blood (hereditary thrombocytopenia in association with giant platelets and inclusion bodies in the leukocytes) was found in a female patient. Both abnormalities are known to exist separately in human and to be transmitted in an autosomal dominant fashion. Whether this patient presented coincidentally with the two conditions or the two abnormal features have a single cause, cannot be resolved by the observation presented.
Gerver
W J
WJ
Department of Pediatrics, University of Limburg, Maastricht, The Netherlands.
Neucker
A V
AV
Schrander-Stumpel
C T
CT
D000328:Adult; D001792:Blood Platelets / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D004393:Dwarfism, Pituitary / Q000097:blood / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D007962:Leukocytes / Q000473:pathology*; D013577:Syndrome; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics*
D013006:Growth Hormone