Pathophysiology
The GNAS1 gene involved in both Pseudohypoparathyroidism type 1a and Pseudopseudohypoparathyroidism is greatly affected by imprinting. When a father who has Pseudohypoparathyroidism undergoes spermatogenesis, imprinting of the GNAS1 gene inactivates both copies of his genes: one will be Functional and the other will be defective. Tissues in the body will re-activate different copies of the GNAS1 gene selectively; the kidneys will selectively activate the (functional) maternal copy while keeping the (defective) paternally-derived gene imprinted and inactive, even in normal individuals. Since the maternally-derived GNAS1 gene is functional, renal handling of calcium and phosphate is normal, and homeostasis is maintained in Pseudopseudohypoparathyroidism. However, the rest of the tissues will instead selectively display the defective gene, resulting in haploinsufficiency of the GNAS1 product in most tissues, and giving the phenotype of Pseudohypoparathyroidism type 1a. As a result, there is also a normal response of urinary cAMP to PTH, and normal serum PTH. Diagnosis
The diagnosis is based on the presence of the Albright hereditary osteodystrophy pseudotype but without the PTH resistance. Blood tests including calcium, phosphate, and PTH will exclude other forms of Pseudohypoparathyroidism. X-rays may reveal a short fourth metacarpal. Genetic testing can confirm the diagnosis by showing GNAS gene mutation. Treatment
Treatments focuses on symptoms, with genetic counseling recommended. History
It was characterized in 1952 by Fuller Albright as "pseudo-pseudohypoparathyroidism" (with hyphen). See also
Antidisestablishmentarianism
Floccinaucinihilipilification
GNAS complex locus
Honorificabilitudinitatibus
Longest word in English
Longest words
Parathyroid hormone
Pneumonoultramicroscopicsilicovolcanoconiosis
Supercalifragilisticexpialidocious

References


== External links ==
Mild manic episodes tend to be interpreted as part of the persons personality or simply a heightened mood. In addition, the disorder often manifests during childhood or adolescence, making it even more difficult for the person to distinguish between symptoms of the disorder and their personality. For example, people may think that they just have mood swings and not realize that these are a result of a psychiatric condition. Management
Cognitive behavioral therapy (CBT) is considered potentially effective for people diagnosed with cyclothymia.Medication can be used in addition to behavioral approaches. However, mood stabilizers should be used before antidepressants, and if antidepressants are used they should be used with caution. Antidepressants are a concern due to the possibility of inducing hypomanic switches or rapid cycling. History
In 1883, Karl Ludwig Kahlbaum identified a disorder characterized by recurring mood cycles. The disorder contained both melancholic and manic episodes that occurred in a milder form than in bipolar disorder. This condition was coined "cyclothymia" by Kahlbaum and his student Ewald Hecker. Kahlbaum developed his theory of cyclothymia through his work with people presenting with these symptoms at the Kahlbaum Sanitarium in Goerlitz, Silesia (Germany). He was recognized as a leading hypnotherapist and psychotherapist of his day. He was a progressive in the field of mental health, believing that mental illness should not carry a stigma and that people dealing with mental health issues should be treated humanely.