Introduction (4 pts) 1. CASE HISTORY: Explain why the couple coming for consultation. (Make up a believable scenario.) Include a pedigree chart of the family history. Calculate the probability that the child will inherit the condition. Known information on the condition (28 pts)
Phillip and Elena have came across their recent finding of CAH disease in themselves and want to see if they will pass it on their upcoming child. Congenital adrenal hyperplasia is a genetic disease that affects the adrenal glands aka endocrine glands (located above the kidneys). CAH limits hormone production which in turn affects growth, and how the body hydrates. Symptoms may include deformed or enlarged genitalia, electrolyte imbalance, low blood pressure which can lead to death and short stature. Most cases are extremely treatable.
2. BACKGROUND: What are other names for the condition? When was it discovered? By whom? Are there different types or severities of the condition?
CAH is the abbreviation for congenital adrenal hyperplasia and another synonym is adrenogenital syndrome. Luigi De Crecchio anatomist first discovered CAH in 1962 when treating patients with no testes and enlarged adrenal glands and in 1989 became a disease which was screened for in many states on birth upon permission of guardian of the newborn. Classic version of CAH results in dehydration, premature puberty, weight loss, and lower blood pressure. While nonclassic CAH results in premature puberty, short stature, and abnormal genitalia.
3. FREQUENCY: How common is the condition? What is the carrier frequency (for recessive diseases)? Is it associated with a particular ethnicity? Is the mutated allele an adaptation to another disease?
CAH occurs 1 in every 15,000 births in the USA and is more common in people from Jewish, Hispanic, or European descent. It is less common in African Americans and people of African descent and Asians. Around 1 in 15 in general world population have been labeled a carrier for CAH, yet don’t always expressed.
4. INHERITANCE: Is the condition dominant/recessive, autosomal/sex-linked?
Congenital adrenal hyperplasia is an autosomal recessive genetic condition. Meaning that it doesn’t skip generation and isn’t affected by gender.
5. MOLECULAR GENETICS: what gene is affected? On which chromosome? At which locus? What are common mutations? What is the gene product (protein)? How does the mutated protein compare with the normal protein? What is the normal function of the protein?
A mutation in CYP21A2 gene directly causes 21-hydroxylase deficiency aka CAH. The CYP21A2 gene provides directions for the gene product 21-hydroxylase. 21-hydroxylase normal function produces hormones like cortisol and aldosterone, and codes for Cytochrome P450 which involved in breaking down lipids, and hormones. The deficiency of this protein triggers the symptoms of CAH disease. The mutation of the gene occurs on chromosome 6.
6. SYMPTOMS: What are the most common symptoms? How are they caused by the mutated protein (or lack of the normal protein)?
The most common symptoms of disease are deformed or enlarged genitalia, short stature, low blood pressure. The lack of 21-hydroxylase causes less production in needed hormones which throws the body of course.
7. TREATMENTS: Does a “cure” exist for the condition? What can be done to help a person with the condition?
There is no immediate or certain cure for CAH that we know of yet. Most patient take a drug or steroid that provides more cortisol, and minor implications of eating salty food has helped the non-classic “salt wasting” variety.
8. TESTING/DIAGNOSIS: Do carrier or prenatal tests exist? What do they involve? How is this condition diagnosed after birth?
Prenatal diagnosis of CAH can identify virilization in female genitalia while still a festus. These tests involve basic screening of the womb. The tests are not always certain and new technology comes in to play and research of CAH is piling it is beginning to allow more noninvasive testing.
9. GENETIC TESTING OPTIONS: Can/should the parents be tested? or the mother go through prenatal testing? a. Could the test results be used as a form of discrimination (jobs, health insurance, etc.)? Explain b. How much does genetic testing cost?
If the family is suspicious that they might be carrier for CAH they can be tested, along with a prenatal test of the womb. The parents would already previously be aware of the disease and won’t be a current problem for discrimination. The health insurance possibly could discriminate against the incoming child’s insurance policies. However The Genetic Information Nondiscrimination Act of 2008 aka GINA makes it illegal to discriminate against employment, and insurance policies. Depending on the type of analysis used to identify the disease it could cost from 600 USD to 1600 USD. However this is included in the Newborn Screening Program in the state of California, under endocrine disorders.
10. TREATMENT: How much will treatments cost? (*it’s not likely to find a “price tag” for each disease, so be prepared to estimate costs given additional info, like # or of hospital visits per year, average cost of hospital stay… etc.) a. Should the family have the child if they may not be able to afford treatments?
A family should still have the baby if not able to afford treatment because there are a lot of funds out there especially in the Bay Area that support pediatric care and treatment. Treatment cost vary based on severity or type of adrenal insufficiency. Cost a year can range from $1,585 – $11,650 but vary.
11. QUALITY OF LIFE: What is the child’s likely quality of life? Lifespan? a. If the fetus is affected, do you recommend the parents abort or keep the child?
The quality of life for patients in the Bay Area is comparably the best to anywhere in the nation with Stanford Medical and UCSF having strong endocrinology departments. In addition Glucocorticoid replacement therapy with hydrocortisone takes two to three doses a day. Depending on the severity checkup maybe required at the monthly basis to annual basis. People with CAH have an average lifespan, and classic CAH requires treatment for life, and nonclassic CAH may require no treatment after puberty. If parents have the money available for treatment there is no reason to abort the baby because of CAH.
12. EMERGING RESEARCH: Is there new research that is promising? Are there clinical trials for new treatments happening?
There is not much new research being done treatment-wise outside further improvement and accessibility for glucocorticoid replacement therapy. However, there is a lot of testing using new technology to better predict CAH, and identify via prenatal screening.
13. SUPPORT SERVICES: What support services are available in the patient’s area? Are services better in another area? Should the family move to be near a particular hospital or research center? What should the parents do to prepare for the arrival of the baby if it does have the condition?
UCSF endocrinology department is documented to be extremely strong and readily equipped to treat adrenal insufficiency so there should be no problem with the quality of doctors or treatment in the Bay Area.
14. Bibliography (4 pts) a. Use MLA format to cite a minimum of 3 sources, no older than the year 2005. Wikipedia is NOT one of your sources. b. à Comment on the quality of information in your top three, especially bias. (Who published the sources? Where does the information come from? Who is the author? What are the author's credentials? When was it published? What is the author's intention?) Professional Conference (4 points)
California Health and Human Services. "History of Congenital Adrenal
Hyperplasia." Newborn Screening Case, 28 Jan. 2018, www.cdph.ca.gov/
Programs/CFH/DGDS/Pages/nbs/Endocrine-Disorders.aspx.
GARD. "Congenital adrenal hyperplasia." Congenital adrenal hyperplasia, US
Department of Health and Human Services, rarediseases.info.nih.gov/diseases/
1467/congenital-adrenal-hyperplasia.
“Congenital Adrenal Hyperplasia (CAH).” Eunice Kennedy Shriver National Institute of Child Health and Human Development, U.S. Department of Health and Human Services, www.nichd.nih.gov/health/topics/cah.
Yau, M, et al. “Prenatal Diagnosis of Congenital Adrenal Hyperplasia.” Current Neurology and Neuroscience Reports., U.S. National Library of Medicine, June 2016, www.ncbi.nlm.nih.gov/pubmed/27241964.
“Genetic Testing.” Cares Foundation, www.caresfoundation.org/monitoring-treatment-of-children/genetic-testing/.
“GINAhelp.org – Your GINA Resource.” GINAhelp.org – Your GINA Resource, www.ginahelp.org/.
15. Sharing of your Client and your Recommendations during our genetics conference. You must, at a minimum have a visual, to share during the presentation. àYour goal is to deliver an interesting and engaging presentation to your peers.
presentation