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Case Study:
Acromegaly
By:BlakeStroia
Consider the Following Patient
John visited the doctor, who picked up on the description
of large hands and feet and decided to check blood levels
of some hormones. The results showed that the boy’s
thyroid hormone levels were down, his cortisol levels low,
his testosterone levels low, and his growth hormone levels
high. Taps of his right knee removed up to 500 cc of fluid,
but no evidence of anything specifically wrong inside his
knee, just that it was being damaged. He looked gaunt and
unhealthy. He had fell and broke his left hip.
What hormonal problem
could be causing these
symptoms??
A. Thyroid gland isn’t working.
B. Pituitary gland has problems.
C. Testes didn’t mature.
D. Adrenal glands are cancerous.
Irradiation
• The symptoms all indicated that a benign pituitary tumor
had put pressure on the pituitary and disrupted its
functions. They used irradiation (aiming from the left,
the right, and the front) to kill the pituitary and any
tumor associated with it.
Follow Up
• The good news was that everything seemed to be
working. The patient was 6'4" now, and had put on
muscle, so he now weighed over 220 lbs. X-rays of the
skull showed that the bone saddle the pituitary rested in,
which had been pitted, was now healing over, which
indicated that the tumor was no longer putting pressure
on the bone and therefore had probably been destroyed.
His hormone levels had stabilized. Of course, he would
need replacement hormones for the rest of his life,
especially cortisol, thyroid, and testosterone, and they
had used a growth hormone suppressant for a year, but
overall Dr. Stroia was happy with his progress.
Problems
• John had also complained of some physical deformities such
as his feet were abnormally large, he had erectile dysfunction,
felt fatigued, large ears, large hands, pounding headaches, and
a protruding jaw which was very painful.
• The doctors all decided he needed jaw surgery to fix his
protruding jaw and fix his discomfort.
Jaw Surgery
• John couldn’t wait to get the wires out of his mouth. His
jaw had been hurting, especially the joint on the left
side. The dentist originally thought he might have TMJ
(temporal mandibular joint dysfunction), and referred
him to a dental surgeon. The surgeon expanded his
upper jaw by splitting it into five pieces, pulling the
pieces into place, and screwing in small metal plates to
hold it all together. The wires were there to let
everything heal. Ten weeks with a mouth wired shut had
been more difficult than he had thought. However, he
was happy to be rid of the frequent headaches.
Blood Sample
• The remaining symptoms caused the doctor to take a blood
sample to see if anything was off. He than realized through the
sample that John has too much growth hormone (GH). Having
too much growth hormone in childhood produces gigantism,
but too much growth hormone later in adolescence produces
acromegaly.
What would your diagnosis
be?
A.Gigantisms
B.Acromegaly
C.Other
The correct diagnosis is….
Acromegaly
Acromegaly is marked by differential growth: bones that have
already fused do not grow, but other parts of the body can grow.
Typically acromegaly is most pronounced in areas such as the
hands, the feet, and the jaw. Thus, John’s lower jaw grew, but his
upper jaw did not, causing a misalignment.
About Growth Hormone
(GH)
• GH binds to two GHRs causing dimerization of GRH, activation of the GRH-
associated Jak2 tyrosine kinase, and tyrosyl phosphorylation of both JAK2
and GHR.
• These events recruit and activate a variety of signaling molecules, including
MAP kinases, insulin receptor substrates, phosphatidylinositol 3’ phosphate
kinase, diacylglycerol, protein kinase C, intracellular calcium, and stat
transcription factors.
• These signaling molecules contribute to the GH-induced changes in
enzymatic activity, transport function, and gene expression that culminate
changes in growth and metabolism.
GH Gene
• The GH gene family comprises five distinct genes all located
on chromosome 17q22 while the pituitary GH gene gives rise
to the abundant circulating 22 kDa GH molecule and the less
abundant 20 kDa GH lacking amino acids 32 to 46.
• Regulation of the pituitary GH gene appears to be under
complex hormonal, developmental and tissue specific control
mediated by regulatory elements of the gene.
GH Signaling Pathway
GH1
Treatment
• Common treatment for Acromegaly is a prescription for a
dopamine promoter such as “Cabergoline”.
• Cabergoline is a long-acting dopamine D2 receptor agonist and
in vitro rat studies show a direct inhibitory effect on the
prolactin secretion in the pituitary’s lactotroph cells.
(Cabergoline)
How does Acromegaly affect
you?
a. I have Acromegaly
b. Someone in my immediate family has Acromegaly
c. Someone in my extended family has Acromegaly
d. Someone I know has Acromegaly
e. No one I know has Acromegaly
References
• "Growth Hormone." Growth Hormone. N.p., n.d. Web. 16 Dec.
2016.
• "Cabergoline - DrugBank." Cabergoline - DrugBank. N.p., n.d.
Web. 16 Dec. 2016.
• "Physiology of growth hormone." Physiology of growth
hormone. N.p., n.d. Web. 18 Dec. 2016.
• "Molecular mechanism of growth hormone action." Annual
review of physiology. U.S. National Library of Medicine, n.d.
Web. 18 Dec. 2016.

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Case Study Biochem

  • 2. Consider the Following Patient John visited the doctor, who picked up on the description of large hands and feet and decided to check blood levels of some hormones. The results showed that the boy’s thyroid hormone levels were down, his cortisol levels low, his testosterone levels low, and his growth hormone levels high. Taps of his right knee removed up to 500 cc of fluid, but no evidence of anything specifically wrong inside his knee, just that it was being damaged. He looked gaunt and unhealthy. He had fell and broke his left hip.
  • 3. What hormonal problem could be causing these symptoms?? A. Thyroid gland isn’t working. B. Pituitary gland has problems. C. Testes didn’t mature. D. Adrenal glands are cancerous.
  • 4. Irradiation • The symptoms all indicated that a benign pituitary tumor had put pressure on the pituitary and disrupted its functions. They used irradiation (aiming from the left, the right, and the front) to kill the pituitary and any tumor associated with it.
  • 5. Follow Up • The good news was that everything seemed to be working. The patient was 6'4" now, and had put on muscle, so he now weighed over 220 lbs. X-rays of the skull showed that the bone saddle the pituitary rested in, which had been pitted, was now healing over, which indicated that the tumor was no longer putting pressure on the bone and therefore had probably been destroyed. His hormone levels had stabilized. Of course, he would need replacement hormones for the rest of his life, especially cortisol, thyroid, and testosterone, and they had used a growth hormone suppressant for a year, but overall Dr. Stroia was happy with his progress.
  • 6. Problems • John had also complained of some physical deformities such as his feet were abnormally large, he had erectile dysfunction, felt fatigued, large ears, large hands, pounding headaches, and a protruding jaw which was very painful. • The doctors all decided he needed jaw surgery to fix his protruding jaw and fix his discomfort.
  • 7. Jaw Surgery • John couldn’t wait to get the wires out of his mouth. His jaw had been hurting, especially the joint on the left side. The dentist originally thought he might have TMJ (temporal mandibular joint dysfunction), and referred him to a dental surgeon. The surgeon expanded his upper jaw by splitting it into five pieces, pulling the pieces into place, and screwing in small metal plates to hold it all together. The wires were there to let everything heal. Ten weeks with a mouth wired shut had been more difficult than he had thought. However, he was happy to be rid of the frequent headaches.
  • 8. Blood Sample • The remaining symptoms caused the doctor to take a blood sample to see if anything was off. He than realized through the sample that John has too much growth hormone (GH). Having too much growth hormone in childhood produces gigantism, but too much growth hormone later in adolescence produces acromegaly.
  • 9. What would your diagnosis be? A.Gigantisms B.Acromegaly C.Other
  • 10. The correct diagnosis is…. Acromegaly Acromegaly is marked by differential growth: bones that have already fused do not grow, but other parts of the body can grow. Typically acromegaly is most pronounced in areas such as the hands, the feet, and the jaw. Thus, John’s lower jaw grew, but his upper jaw did not, causing a misalignment.
  • 11.
  • 12. About Growth Hormone (GH) • GH binds to two GHRs causing dimerization of GRH, activation of the GRH- associated Jak2 tyrosine kinase, and tyrosyl phosphorylation of both JAK2 and GHR. • These events recruit and activate a variety of signaling molecules, including MAP kinases, insulin receptor substrates, phosphatidylinositol 3’ phosphate kinase, diacylglycerol, protein kinase C, intracellular calcium, and stat transcription factors. • These signaling molecules contribute to the GH-induced changes in enzymatic activity, transport function, and gene expression that culminate changes in growth and metabolism.
  • 13. GH Gene • The GH gene family comprises five distinct genes all located on chromosome 17q22 while the pituitary GH gene gives rise to the abundant circulating 22 kDa GH molecule and the less abundant 20 kDa GH lacking amino acids 32 to 46. • Regulation of the pituitary GH gene appears to be under complex hormonal, developmental and tissue specific control mediated by regulatory elements of the gene.
  • 15. GH1
  • 16. Treatment • Common treatment for Acromegaly is a prescription for a dopamine promoter such as “Cabergoline”. • Cabergoline is a long-acting dopamine D2 receptor agonist and in vitro rat studies show a direct inhibitory effect on the prolactin secretion in the pituitary’s lactotroph cells. (Cabergoline)
  • 17. How does Acromegaly affect you? a. I have Acromegaly b. Someone in my immediate family has Acromegaly c. Someone in my extended family has Acromegaly d. Someone I know has Acromegaly e. No one I know has Acromegaly
  • 18. References • "Growth Hormone." Growth Hormone. N.p., n.d. Web. 16 Dec. 2016. • "Cabergoline - DrugBank." Cabergoline - DrugBank. N.p., n.d. Web. 16 Dec. 2016. • "Physiology of growth hormone." Physiology of growth hormone. N.p., n.d. Web. 18 Dec. 2016. • "Molecular mechanism of growth hormone action." Annual review of physiology. U.S. National Library of Medicine, n.d. Web. 18 Dec. 2016.