Psychosocial and Support Groups CAH

Psychosocial CAH:

* would probably affect girls more than guys

Morgan JF, Murphy H, Lacey JH, Conway G. Long term psychological outcome for women with congenital adrenal hyperplasia: cross sectional survey. BMJ 2005; Issue 330: pp 340-341 (12 February)

found that women with CAH are psychologically well adjusted and do not show substantially increased psychiatric disorder or deficits of social adjustment or decrease in self-esteem compared with population data. Low levels of sexual activity and higher levels of non-heterosexual orientation are indicated. Conclude that women may struggle to adapt, but are psychologically robust.

Ogilvie CM, Crouch NS, Rumsby G, Creighton SM, Liao LM, Conway GS. Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues. Clinical Endocrinology; Volume 64, Issue 1: pp. 2-11 (January 2006)

- decreased fertility in women because unsatisfactory intercourse, higher prevalence of polycystic ovaries leading to ovulatory dysfunction, and elevated follicular phase progesterone levels causing failure of implantation.

- more reluctant to establish intimate relationships (higher levels of penetration difficulties, persistent pain during intercourse, and lower attainment of orgasm)

- possible that the early exposure of the brain to hyperandrogenism may be responsible for the psychological outcomes (low heterosexual activities)

- tendency to play ‘boy toys’ and more likely to accept boys as playmates

- in males, infertility and oligospermia (?)

________________________________________________________________________

Congenital Adrenal Hyperplasia Education and Support Network

http://www.congenitaladrenalhyperplasia.org/

“Communicating with other people or families with CAH is an essential part of living with Congenital Adrenal Hyperplasia.”

http://www.congenitaladrenalhyperplasia.org/people.html

Some of the organisations:

1. CARES Foundation

- in New Jersey

- family fun days

- talks by professionals

- stresses importance of screening

Packets for parents

- newborn screening packets given to qualified parents

- contain screening materials and information for parents and physicians

http://www.savebabies.org/NBS/packetsforparents.php

United States

Alabama	Illinois	Montana**	Rhode Island
Alaska	Indiana	Nebraska	South Carolina
Arizona	Iowa	Nevada	South Dakota
California	Kentucky	New Jersey	Tennessee
Colorado	Louisiana	New Mexico	Texas
Connecticut	Maine	New York	Utah
Delaware	Maryland	North Carolina	Vermont
District of Columbia	Massachusetts	North Dakota	Virginia
Florida	Michigan	Ohio	West Virginia*
Georgia	Minnesota	Oklahoma	Washington
Hawaii	Mississippi	Oregon	Wisconsin
Idaho	Missouri	Pennsylvania	Wyoming

Canada

Manitoba
North West Territories
Nunavut (West)
Ontario*

*Screening is approved but not yet implemented
**(through pilot program-optional for $4.00)

http://www.caresfoundation.org/

http://caresfoundation.org/what.html

2. CLIMB CAH Support Group

- formed in 1992..sub group of Children Living with Inherited MetaBolic Diseases

(CLIMB)

- made up of members of families and professionals

- conduct meetings, national conferences, newletters

- members can consult the professionals

http://www.cah.org.uk/

3. CAH Support Group Australia

- improve knowledge and services for those diagnosed with CAH

- provide education and support

- magazines which contain outcomes of current studies, practical hints and services,

‘Ask the Dr’ questions and personal stories

- Annual Symposium: lectures from specialists and Q&A sessions

http://www.cah.org.au/

Support Groups in Malaysia?

Hi All,
Jun. 19th, 2006 7:13am

I am Malaysian, I married with 3 kids. Unfortunataly I have 2 kids with CAH first child boy now 4 years old and the latest is girl was born on 01/06/06 with CAH. Thanks to god that my second baby is girl is free from CAH now she is 11 month years old. Here in Malaysia not many people understand about this and dont even bother to know it and if they know also they thing is weird. I hope you all can share with me about this CAH. many thank to all.

Thank You.

http://www.congenitaladrenalhyperplasia.com/mb/kids/0006370128/?reply=yes

(Posted by: Vivian)

CAH Definition, Aetiology, DDx

Definition
Congenital adrenal hyperplasia is (CAH) a genetic disorder characterized by a deficiency in the hormones cortisol and aldosterone.

Aka adrenogenital syndrome; 21-hydroxylase deficiency.

Aetiology
CAH is an autosomal recessive disorder; both sexes are affected with equal frequency.

Homozygous patients are affected with CAH. Heterozygotes are asymptomatic carriers.

Many of the genes involved in cortisol and aldosterone synthesis code for CYP proteins. The best-studied gene is the 21-hydroxylase gene (CYP21, CYP21B). The 21-hydroxylase gene is located on the short arm of chromosome 6 among genes that code for proteins determining human leukocyte antigen (HLA) types (controlling immune function).

Various mutations of the 21-hydroxylase gene result in various degrees of CAH (salt-losing form, simple-virilizing form, and the nonclassic form).

Clinical presentation

Types	Name	Female symptoms	Male symptoms
Severe CYP21, CYP11B1, partial 3-beta-hydroxysteroid dehydrogenase deficiency	Female: Classic virilizing adrenal hyperplasia/ Classic salt-wasting adrenal hyperplasia	Ambiguous genitalia at birth due to excess adrenal androgen production in utero	Normal genitalia at birth; present at 1-4 weeks because of FTT, recurrent vomiting, dehydration, hypotension, hyponatremia, hyperkalemia, shock
Mild 21-hydroxylase deficiency	Simple virilizing adrenal hyperplasia	Present later in childhood; precocious pubic hair, clitoromegaly, or both often accompanied by accelerated growth and skeletal development due to excess postnatal exposure to adrenal androgens	Present later in childhood; early development of pubic hair, phallic enlargement, or both accompanied by accelerated linear growth and advancement of skeletal maturation
Milder deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase activity	Nonclassic adrenal hyperplasia	Present in adolescence or adulthood; oligomenorrhea, hirsutism, and/or infertility
Steroidogenic acute regulatory (StAR) deficiency, classic 3-beta-hydroxysteroid dehydrogenase deficiency, or CYP17 deficiency		Phenotypically female at birth but does not develop breasts or menstruate in adolescence because of inadequate estradiol production	Ambiguous genitalia or female genitalia due to inadequate testosterone production in the first trimester of fetal life

Differential Diagnosis
Ambiguous genitalia
Possible causes in genetic females

• Congenital adrenal hyperplasia (CAH). Certain forms of this genetic condition cause the adrenal glands to make excess male hormones (androgens). Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia in newborns.
• Ingestion by the mother of substances with male hormone activity, such as progesterone (taken in the early stages of pregnancy to stop bleeding).
• Tumors in the fetus or the mother that produce male hormones.

Possible causes in genetic males

• Impaired testicle development due to genetic abnormalities or unknown causes.
• Leydig cell aplasia, a condition that impairs testosterone production.
• Congenital adrenal hyperplasia. Certain forms of this genetic condition can impair production of male hormones.
• Androgen insensitivity syndrome, a condition in which developing genital tissues are unable to respond to normal male hormone levels.
• 5 alpha reductase deficiency, an enzyme defect that impairs normal male hormone production.
• Ingestion by the mother of substances with female hormone activity, such as estrogens, or anti-androgens. This is unusual, but could occur if a woman taking birth control pills gets pregnant despite taking the pills — then, not knowing she's pregnant, continues taking the pills into pregnancy for several weeks. Also some "nutritional supplements" contain plant estrogens.

Vomiting
In infants,

• Serious infection (eg, sepsis, meningitis)
• Gastroesophageal reflux
• Obstructive GI disorders such as pyloric stenosis or bowel obstruction (eg, from duodenal stenosis or volvulus) - a constriction in the outlet from the stomach
• Neurologic conditions (eg, meningitis, tumor or other space-occupying lesion)
• Metabolic disorders (eg, adrenogenital syndrome, galactosemia)

In older children, vomiting often results from acute gastroenteritis or appendicitis.

Lethargy/sleepiness
Dehydration

Sources:
http://www.emedicine.com/ped/topic48.htm
www.caresfoundation.org
http://www.merck.com/mmpe/sec19/ch266/ch266l.html

Congenital Adrenal Hyperplasia(Pathophysiology)
Ji Keon LOOI

Congenital Adrenal Hyperplasia
• an autosomal recessive diseases (mutation arises on chromosome six)
• lack of an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone
• pervert or impair development of primary or secondary sex characteristics in affected infants, children, and adults.
• 21-Hydroxylase enzyme deficiency, accounts for approximately 90-95% of all CAH disorders

Result of a 21-Hydroxylase Deficiency
• Accumulation of progesterone and 17-hydroxyprogesterone as a result of a 21-hydroxylase deficiency.

CAH results in 3 disturbances:
• Lack of Cortisol
• Lack of Aldosterone
• Too much Androgen

In Normal Babies
• When babies begin their development within the womb, it is impossible to distinguish male and female genitalia - the "undifferentiated" genitalia of males and females look alike.
• In boys, between approximately 12 to 15 weeks after conception, their testes start producing androgen, which drives the "undifferentiated" genitalia to develop the male structure and characteristics.
• As androgen is not normally produced in the female fetus, this "masculinization" does not occur.

In CAH Babies (female)
• In CAH, however, the adrenal glands of the female overproduce androgen – forcing the girl's genitalia to begin development in the male direction.
• The clitoris is enlarged with the urethral opening at the base and may resemble a small penis.
• In addition, the cleft between the labia or lips may be partly closed over, hiding the entrance to the vagina.
• Often only one opening can be seen, with the urinary passage and vagina both opening into this one entrance.
• Normal internal organs - the vagina, uterus (womb), fallopian tube and ovaries.

Males??
• No obvious problems in newborn males
• changes can be seen long before puberty normally occurs.
• The child becomes increasingly muscular, the penis enlarges, pubic hair appears, and the voice deepens.
• Boys may appear to enter puberty as early as 2-3 years of age.
• At puberty, the testes are small

21-hydroxylase enzyme deficiency
• In more severe forms - adrenal crisis in the newborn due to salt wasting (21-hydroxylase enzyme deficiency).
• severe symptoms shortly after birth- vomiting, dehydration , electrolyte changes, and cardiac arrhythmias .
• Untreated, lead to death within 1 to 6 weeks after birth.

Sources
• http://www.emedicine.com/ped/topic48.htm
• http://www.cah.org.au/index.php?option=com_content&task=view&id=12&Itemid=31
• http://www.umm.edu/ency/article/000411.htm
• http://www.aafp.org/afp/990301ap/1190.html
• http://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia

Task List

Congenital Adrenal Hyperplasia (CAH)

1. Epidemiology - Lawrence
2. Definition, Aetiology and Differentials for ambigious genitalia - Madhura
3. Pathophysiology (Inclusive of steroidogenesis pathway) - Ji Keon
4. Signs and Symptoms - Shantz
5. Investigations - Sri
6. Management, Prognosis and Complications - Christine / John
7. Psychosocial issues, Breaking bad news - support groups, website, referral, genetic counselling - Vivian / Chris

Updated by JI KEON on 30 Jul 2007

Labelling our posts

To avoid confusion to differentiate between pcl materials from MED2031 and MED2042 since we start with Week 1 again this semester, I would suggest that we label our work according to the title of the week.

I have entered all the pcl titles under this post and they should appear when you type in the first letter into the label slot. Alternatively, click on Show all to display all the pcl title.

Thanks.

Ji Keon