Friday, June 21, 2024

Is Congenital Adrenal Hyperplasia A Disability

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Th And 21st Centuries

Congenital Adrenal Hyperplasia

The association of excessive sex steroid effects with diseases of the adrenal cortex have been recognized for over a century. The term “adrenogenital syndrome” was applied to both sex-steroid producing tumors and severe forms of CAH for much of the 20th century, before some of the forms of CAH were understood. Congenital adrenal hyperplasia, which also dates to the first half of the century, has become the preferred term to reduce ambiguity and to emphasize the underlying pathophysiology of the disorders.

Much modern understanding and treatment of CAH comes from research conducted at Johns Hopkins Medical School in Baltimore in the middle of the 20th century. Lawson Wilkins, “founder” of pediatric endocrinology, worked out the apparently paradoxical pathophysiology: that hyperplasia and overproduction of adrenal androgens resulted from impaired capacity for making cortisol. He reported use of adrenal cortical extracts to treat children with CAH in 1950. Genital reconstructive surgery was also pioneered at Hopkins. After application of karyotyping to CAH and other intersex disorders in the 1950s, John Money, JL Hampson, and JG Hampson persuaded both the scientific community and the public that sex assignment should not be based on any single biological criterion, and gender identity was largely learned and has no simple relationship with chromosomes or hormones. See Intersex for a fuller history, including recent controversies over reconstructive surgery.

Your Adrenal Gland Disorders Disability Case

If you have been diagnosed with an Adrenal Gland Disorder and are unable to work as a result of the complications from it, you may be entitled to receive Social Security Disability benefits. Because proving the presence of a true disability can quickly become very complicated, it would be in your best interests to enlist the services of a qualified Social Security Disability attorney.

While it may seem like a pretty simple task to fill out some paperwork and send it in, the reality is that over two thirds of the first-time applications for Social Security Disability benefits are denied. Its not so much that so few people are legitimately entitled to benefits; the problem is that their application paperwork is inaccurate or incomplete. An experienced Social Security Disability lawyer is intimately familiar with the application process, and has detailed knowledge about what it takes to adequately document the impact an Adrenal Gland Disorder has had upon your life. As a result, you stand a much better chance of winning approval of your disability case as soon as possible.

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Late Onset Forms Of The Disease

Milder cases of lipoid CAH have been described that arise from less severe mutations that compromise but do not eliminate the ability of StAR to instigate steroid production. In these cases, mineralocorticoid deficiency emerges up to several years after birth. Sex steroid production may be sufficient to allow for normal sexual development as well and even fertility.

These nonclassic forms of the disorder are sometimes diagnosed as familial glucocorticoid deficiency type 3.

Wisconsin Card Sorting Test

Congenital Adrenal Hyperplasia

WCST is a tool for recognising frontal cortical executive functions . Psychological Assessment Resources , Odessa ; 1993 . ). A computer-based test is used, in which 4 stimulus cards appear on the screen, with symbols differing in colour, shape, and number. A fifth card is presented to the child, and the child is asked to match the card presented with one of the 4 stimulus cards and sort it under the most suitable stimulus card. The examiner declares if this match is right or wrong and accordingly the child keeps or changes his chosen strategy. Ten indices are chosen for assessment . The test is normal if the number of categories completed >6 . Psychological Assessment Resources , Odessa ; 1993 . ).

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Types Of Congenital Adrenal Hyperplasia

In children with CAH, the adrenal glands lack certain enzymes needed to process cortisol and aldosterone. In close to 95 percent of cases, the missing enzyme is called 21-hydroxylase. CAH caused by this missing enzyme is called 21-hydroxylase deficiency.

There are two forms of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.

  • Classical CAH: This is the most severe form of the disease and is less common. In people with classical CAH, the body fails to produce any cortisol, which is needed to regulate blood pressure, blood sugar, and help your body respond to illness or injury. Many children with classical CAH are also unable to secrete aldosterone or able to maintain an adequate amount of salt in their bodies, a situation that can lead to severe dehydration and even death if left untreated.;
  • Nonclassical CAH: This is the most common form of CAH and is mild in presentation. The body makes enough cortisol, but too much of certain androgens, like testosterone and 17-hydroxyprogesterone. Aldosterone secretion is normal in people with nonclassical CAH.

Is Congenital Adrenal Hyperplasia Inherited

Congenital adrenal hyperplasia is an inherited condition through mutations in the genes that code for adrenal enzymes. It is a recessive disorder, which means that you need to inherit a mutation from both parents. Most parents who have a single gene mutation will not be affected by the condition; it is only when you inherit a mutation from both your mother and father that you develop the condition. There are a variety;of mutations, some of which severely affect enzyme activity and others that have only a minor effect. Thus, there is a variety of severities for the condition.

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How Is Congenital Adrenal Hyperplasia Treated

The goals of treatment for congenital adrenal hyperplasia are to both replace the deficient steroid hormone cortisol and to normalise the excessive male hormone secretion. This is done by giving steroid hormone therapy, usually in the form of;hydrocortisone during childhood, and a variety of steroids in adult life. The goal of treatment is to optimise growth and development during childhood and maintain;;and health in adult life. For children, steroids are usually given as tablets three times daily. In adults, hydrocortisone is used in addition to other longer-acting steroids such as prednisolone and dexamethasone. In patients lacking aldosterone production, replacement with fludrocortisone is required to achieve normal salt balance. ; The exact treatment given will vary between patients depending on severity of their condition and the specific;genetic mutation’>genetic mutation they have. If;patients have any queries about their medication, they should discuss them with their doctor.

Are There Any Side

Congenital Adrenal Hyperplasia CAH

The major challenge for the treatment of congenital adrenal hyperplasia is the balance between too little or too much steroid hormones.;

Higher doses of hydrocortisone must be supplied for medical emergencies as the body is unable to make its own cortisol in response to stressful situations. Patients should also carry an;;hydrocortisone injection in case of vomiting and a steroid card, and wear Medic-Alert jewellery.

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Symptoms Of Congenital Adrenal Hyperplasia

Symptoms vary depending on the age of diagnosis and the type of congenital adrenal hyperplasia that the patient has. Children with milder forms of this disorder may not show signs during their childhood, and they may be diagnosed in their adulthood. Girls with severe forms have abnormal genitals at birth, while boys with severe forms of this disorder may appear normal at birth. For children with a more severe case of congenital adrenal hyperplasia, signs include poor feeding and vomiting, dehydration, an abnormal heart rhythm, and abnormal levels of sodium and potassium in their blood. Girls with milder forms may appear to have normal female reproductive organs; however they will experience early growth of pubic hair, failure to menstruate, and an enlarged clitoris. For boys with a milder form, they will have a deeper voice, an enlarged penis with normal testes, and have well-developed muscles at an early age. For these boys and girls, they will be taller than most children however during their adulthood they will be much shorter than normal. In their adult life, a woman may face multiple health problems including infertility and risk of developing obesity and hypertension due to excess steroids.

Filing For Social Security Disability With An Adrenal Gland Disorder Diagnosis

Adrenal Gland Disorders are listed in the Social Security Administrations impairment listing manual as conditions that may qualify a person to receive Social Security Disability Insurance or Supplemental Security Income. In the section detailing disorders of the Endocrine System, the SSA spells out the criteria under which disability benefits may be warranted. In the case of Adrenal Gland Disorders, these criteria are evaluated under the complications caused by the specific disorder. For example, if the particular Adrenal Gland Disorder results in osteoporosis and ensuing bone fractures or loss of mobility, the disability would be evaluated using criteria for the musculoskeletal system. If the Adrenal Gland Disorder results in high blood pressure that causes heart problems such as heart failure or arrhythmia, the disability would be evaluated under criteria for the Cardiovascular System. The same goes for things like weight-loss problems, mood disorders, etc.

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Does Congenital Adrenal Hyperplasia Cause Weight Gain

adrenalCAHweight gain

. People also ask, is congenital adrenal hyperplasia a disability?

Specific learning disabilities have been rarely reported in congenital adrenal hyperplasia. The impact of hormones on cognition is still not clearly defined, but it is postulated that females with this condition have excess prenatal androgen stimulation, which increases the risk for cognitive impairment.

Furthermore, what happens in congenital adrenal hyperplasia? In congenital adrenal hyperplasia , a mutation causes the adrenal glands to make too little cortisol. In the most common type of CAH, called 21-hydroxylase deficiency, the adrenal glands also might not make aldosterone.

One may also ask, what is late onset congenital adrenal hyperplasia?

Nonclassical or lateonset CAH is a milder type that occurs in older children and young adults. This type is caused by a partial enzyme deficiency instead of the enzyme being completely absent. If you have this type of CAH, your adrenal glands can make aldosterone, but not enough cortisol.

What is congenital adrenal hyperplasia what effects does it have on female fetuses?

Signs and symptoms of classic CAH in infants include: In females, enlarged clitoris or genitals that look more male than female at birth, but males have normal appearing genitals. Significant illness related to a lack of cortisol, aldosterone or both , which can be life-threatening.

What Are The Types Of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia

There are 2 main types of CAH.

  • Classic CAH is the more severe form and is usually noticed during infancy or early childhood. There are 2 types of classic CAH salt-losing CAH and non-salt losing CAH.
  • Non-classic CAH, or late-onset CAH, is the milder form and is usually noticed in adolescence or early adulthood.

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What Are The Signs And Symptoms Of Congenital Adrenal Hyperplasia

A foetus affected by congenital adrenal hyperplasia will produce excessive male hormones during development. If the foetus is female, this will result in;;of the external;; and the female baby may be born with ambiguous genitalia . As both boys and girls with congenital adrenal hyperplasia have a deficiency of cortisol, they are likely to present in the first few days or weeks of life with an;adrenal crisis;unless treated with steroid replacement.;

During childhood, the healthy child switches off their production of sex steroid hormones. However, if the infant has untreated congenital adrenal hyperplasia, they will produce excessive levels of male hormones such as testosterone from their adrenal glands. This will result in rapid growth of both boys and girls, with the additional effect of virilisation of girls. The adrenal;;also create an early or;precocious puberty;with pubic hair growth, body odour, and enlargement of the penis or clitoris at a younger age than would normally be expected. This can cause early fusion of the bones. Thus, both boys and girls with poorly controlled congenital adrenal hyperplasia will have rapid growth in early childhood and will be a tall child but a short adult.

Lipoid Congenital Adrenal Hyperplasia

Congenital lipoid adrenal hyperplasia due to StAR deficency
Lipoid congenital adrenal hyperplasia is inherited in an autosomal recessive manner

Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia . It arises from defects in the earliest stages of steroid hormone synthesis: the transport of cholesterol into the mitochondria and the conversion of cholesterol to pregnenolonethe first step in the synthesis of all steroid hormones. Lipoid CAH causes mineralocorticoid deficiency in affected infants and children. Male infants are severely undervirilized causing their external genitalia to look feminine. The adrenals are large and filled with lipid globules derived from cholesterol.

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What Causes Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia results from mutations in the;;that codes for one of several enzymes responsible for making steroid hormones in the adrenal glands. The most common enzyme to be affected is 21-hydroxylase, which is a key regulator in the synthesis of the stress hormone;cortisol. In about two-thirds of affected individuals, the enzyme defect in the adrenal may also affect the production of the hormone;aldosterone, which is responsible for retaining salt in the body.;

Single mutations in the gene that codes for 21-hydroxylase are very common, affecting 1 in 50 people in the overall population. However, congenital adrenal hyperplasia is a recessive disorder meaning you must inherit a;;in the gene from both parents in order to develop the condition. Thus, approximately 1 in 12,000 babies will be born with congenital adrenal hyperplasia.

In patients with congenital adrenal hyperplasia, the body recognises the lack of cortisol and therefore tries to stimulate the adrenal glands to try to produce sufficient levels. However, because there is an enzyme defect, the adrenal glands cannot produce cortisol and instead produces excess amounts of precursor steroids. These precursor steroids are mostly androgenic, that is, similar to the male hormone,;testosterone. An excess of male hormones leads to development of male characteristics and precocious puberty.

What Are The Longer

Biology of DSDs (4) Congenital Adrenal Hyperplasia

Patients with congenital adrenal hyperplasia usually have to take lifelong steroid medication. Current treatments try to mimic normal biology as much as possible, but are not perfect. The evidence suggests that if well treated during childhood, most patients with congenital adrenal hyperplasia will reach a normal adult height but probably be a little shorter than would have been predicted if they did not have the disorder. Fertility is reduced in some patients but there are an increasing number of options for helping patients achieve fertility.;Reconstruction genital surgery might be required in older girls with ambiguous genitalia. Maintaining the right balance of steroids is important during adult life to avoid the complications of;osteoporosis, obesity and hypertension.;

Although congenital adrenal hyperplasia is a lifelong condition, it can be very successfully treated with the right balance of steroid medication and patients can lead full and active lives.

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Tests & Treatments For Congenital Adrenal Hyperplasia

To test your child, blood tests include serum electrolytes, aldosterone, renin, and cortisol. This is usually diagnosed at the time of birth, and it is easier to notice in female infants compared to male infants. Genetic tests can also be performed to diagnose your child. To treat this disorder, the goal is to return the hormone levels to normal and to maintain fertility and health in their adult life. This can be done by taking cortisol. There are also many support groups available to help understand the disability and find coping mechanisms. Although this is a lifetime condition, it can be treated successfully through steroid medication which will help to improve ones quality of life.

Get Help From The Board Certified Attorneys At Marc Whitehead & Associates

To prove equivalency, you and your Social Security disability attorney will need to show the SSA that you have been unable to work for 12 months or longer due to problems related to your disability. If you are able to do this, you will win the benefits that you need to survive.

Learn even more about the claims process by reading our Social Security Disability eBook for free and be sure to read through our extensive disability blog for more information on how you can get the Social Security disability benefits that you deserve.

If you need help today, call us at for a free case evaluation.

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Remember Equivalent Severity For Adrenal Gland Disorders

Dont forget that matching a listing isnt the only way to qualify for adrenal gland disorder Social Security disability benefits. If you are unable to do so, you can always utilize the Five Step Sequential Evaluation Process to prove the true presence of disability caused by your impairment. SSA presumes any person suffering from a condition that satisfies the criteria of a listing is in fact unable to work and earn a living, and is thus disabled.

What Is Congenital Adrenal Hyperplasia

(PDF) Congenital adrenal hyperplasia at the Lagos ...

Congenital Adrenal Hyperplasia is a group of inherited disorders of the adrenal gland. It is caused by mutations in the gene that is responsible for making steroid hormones in the adrenal glands. There are 2 adrenal glands located at the top of each of the kidneys. Hormones are produced by these glands, and are essential for life. This disorder causes the body to produce more androgen which causes male characteristics to appear. This is because androgen is a type of male sex hormone; however this disorder can be found in both boys and girls.

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