AHO, Pseudohypoparathyroidism, and Bicuspid Aortic Valve


Question

I'm caring for an patient with AHO and Pseudohypoparathyreoidism. Also she is suffering from aortic stenosis caused by a bicuspid aortic valve. Is there any known linkage between AHO and bicuspid aortic valve ? Sincerely yours, Dr P.Matheiowetz

Response

Thanks for your query. I recommend you contact Dr. David Cole in Toronto and he would have further insights. Patients with 2q37 deletion have been reported with an Albright hereditary osteodystrophy (AHO)-like phenotype and ductus arteriosus and possible bicuspid aortic valve (see Reddy KS et al 1999 Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. Am J Med Genet 84: 460-468 and references therein – see Table 1). Yours sincerely, Geoff Hendy, MD

Diagnosing and Managing Hypernatremia


Question

Could you pl write how to differentiate if hypernatremia is from hypo or adypsia versus reset osmostat in an individual with hx of head injury in the past and if the history about thirst is limited because of mental retardation. Also pl let me know how to manage hypernatremia from reset osmostat. padmalatha berikai

Response

This is a difficult problem, and in principle it may not be possible to differentiate hypodipsia from a reset osmostat (indeed, they may be pathophysiologically the same process). Managing patients with adipsia is one of the most challenging to neuroendocrinologists, and this is especially the case with patients less mentally astute. I generally admit them for a few days and get a baseline weight and fluid intake which keeps the serum osmolality in the normal range, and then instruct their carers to keep them to this input with at least weekly weighing. If their weight departs from the determined set-point then the fluid intake can be adapted accordingly. If possible, a check on the osmolality at intervals will allow them to see if the balance is working out. This means a lot of input from the carer, but the only patients who do well long-term are those with good home input. Ashley Grossman, MD

Reliability of Cortrosyn Test


Question

I did a CST on a young male, aged 16, because he had been given some compounded steroids by a "fibromyalgia clinic" because of diagnoses adrenal insufficiency. The early AM cortisol level was low at 2.1 ug/dl and the one hour was normal at 25.9 ug/dl. What is the significance of the low 8 AM value and do I need to do anything else? Clinically, he had hyperthyroidism due to compounded T3 from the same clinic and, of course, the T3 has been discontinued and further evaluation will be done in a few weeks after being off of the T3. Thanks for your help with this. Ann Ward, MD Taylorsville, GA

Response

Dear Dr. Ward, regardless of the basal value, a post cortrosyn test of greater than 20 mc per dL at 60 min suggests that you do not need to cover this patient with glucocorticoids. Single am measurements of cortisol can be misleading, granted that cortisol is secreted in a pulsatile fashion.Best regards!

GP Chrousos, MD