Wednesday, September 24, 2008

Hypothyroidism in patients with pseudohypoparathyroidism?

....In light of my last post, I found the article by Balavoine, et al, Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH, intriguing, also.
Objective: Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia). The objective of the study was to determine the mechanisms of hypothyroidism in PHP Ia.
Hypoparathyrodism is another endocrine problem considered "rare". Many of us with Cushing's Disease have other endocrine and auto-immune dysfunctions. Malfunctions. Non-functions. You get the idea. Although only the MEN varieties have been considered hereditary, there is new evidence of a familial link to Cushing's and other endocrine disorders. And this may be even another.

In Update in Pituitary Disease, Schlomo Melmed of Cedars-Sinai Medical Center, Los Angeles writes:
A recent paper (8), for the first time, proposed the aryl hydrocarbon receptor interacting protein (AIP) gene as predisposing to pituitary adenoma......Drouin and colleagues (3) discovered that glucocorticoid resistance of ACTH-secreting tumors can be attributed to loss of Brg1 or histone deacetylase (HDAC)-2 nuclear expression. This transrepression of the POMC gene in corticotrophs could therefore be a mechanism underlying the formation of ACTH-secreting tumors (3)."
Also, the following:
A large body of work was published relating to the genetic analysis of pituitary tumors. A comprehensive study from Belgium (6) characterized familial isolated pituitary adenomas. These very rarely encountered index families comprised patients with heterogenous features of acromegaly, prolactinoma, and Cushing’s disease. Significantly affected individuals were younger, some were giants, and some harbored more invasive tumors than sporadic patients. The challenge in these rarely encountered and similar families (7) has been that they appear to harbor a mutation in the 11q region, distinct from multiple endocrine neoplasia-1 or any other related tumor suppressor gene. The challenging question in these families has been that the identity of the gene on 11q that predisposes to these traits has remained elusive.
And there is more....but I am tired. My non-functions, malfunctions and dysfunctions rule tonight.

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