Abstract
In Kearns-Sayre Syndrome (KSS) (progressive external ophthalmoplegia, pigmentary retinal degeneration, and heart block) the growth failure and delayed sexual maturation have not previously been studied in detail. We investigated a 15½ year old boy with KSS. A CAT scan revealed loss of the basal ganglia and of cere-bellar white matter. His bone age was 10 years. An OGTT was abnormal at 120 and 180 minutes (161 and 164 mg/dl respectively). The IV GTT was normal: K value 2.31. Thyroid function was normal in the basal state; following TRH, the TSH and prolactin responses were normal, but the T4 had not increased by 90 minutes. The growth hormone response was normal to both insulin and glucagon. The plasma cortisol and ACTH showed normal diurnal variation; after release from metapyrone block, neither the plasma cortisol nor the 17-OH excretion increased appropriately, although the ACTH response was normal. The LH, FSH and testosterone were normal for his BA; following three days of high dose HCG, the testosterone did not increase. After water deprivation, the urinary osmolality was 1011 mosm/kg.
Thus in our patient with KSS there is evidence to suggest lack of functional reserve or end organ unresponsiveness of the thyroid, adrenal and testis; hypothalamic-pituitary function appears to be intact to provocative stimuli.
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Maby, S., Cowger, M. & Vallet, H. 312 NEUROENDOCRINE EVALUATION OF A PATIENT WITH KEARNS SAYRE SYNDROME (KSS). Pediatr Res 12 (Suppl 4), 415 (1978). https://doi.org/10.1203/00006450-197804001-00317
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DOI: https://doi.org/10.1203/00006450-197804001-00317