Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. Most of these diseases involve excessive or defective production of sex steroids and can pervert or impair development of primary or secondary sex characteristics in affected infants, children, and adults. Only a small minority of people with CAH can be said to have an intersex condition, but this attracted American public attention in the late 1990s and many accounts of varying accuracy have appeared in the popular media. The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The International Classification of Diseases for Oncology (ICD-O) is a domain specific extension of the International Statistical Classification of Diseases and Related Health Problems for tumor diseases. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... An autosome is a non-sex chromosome. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... Synthesis (from the Greek words syn = plus and thesis = position) is commonly understood to be an integration of two or more pre-existing elements which results in a new creation. ... Cortisol is a corticosteroid hormone that is involved in the response to stress; it increases blood pressure and blood sugar levels and suppresses the immune system. ... Cholesterol chemical structure Cholesterol is a sterol (a combination steroid and alcohol) and a lipid found in the cell membranes of all body tissues, and transported in the blood plasma of all animals. ... Grays Fig. ... A sex steroid is a steroid hormone which interacts with vertebrate androgen or estrogen receptors. ... Primary sex characteristic In biology and medicine, primary sex characteristics are those differences in male and female anatomy which are present at birth. ... A peafowl displays its secondary sexual characteristics (long, colored feathers). ... An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ...

Examples of problems caused by various forms of CAH:

• ambiguous genitalia such that it is difficult to determine sex
• vomiting leading to dehydration and death in early infancy
• early pubic hair and rapid growth in childhood
• precocious puberty or failure of puberty to occur
• excessive facial hair, virilization, and/or menstrual irregularity in adolescence
• infertility due to anovulation

An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ... Pubarche refers to the first appearance of pubic hair in a child. ... Precocious puberty means early puberty. ... Puberty refers to the process of physical changes by which a childs body becomes an adult body capable of reproduction. ... Hirsutism is the excessive growth of hair, particularly on a womans face, torso and limbs, and is generally caused by increased androgens. ... In biology and medicine, virilization refers to the development of changes which make a male body different from a female body. ... Menstrual cycle. ... Infertility is the inability to naturally conceive a child or the inability to carry a pregnancy to term. ... In medicine, anovulation is absence of ovulation when it would be normally expected (in a post-menarchal, premenopausal woman). ...

Overview of the multiple types of CAH

Cortisol is an adrenal steroid hormone necessary for life; production begins in the second month of fetal life. Inefficient cortisol production results in rising levels of ACTH, which in turn induces overgrowth (hyperplasia) and overactivity of the steroid-producing cells of the adrenal cortex. The defects causing adrenal hyperplasia are congenital (i.e., present at birth). Cortisol is a corticosteroid hormone that is involved in the response to stress; it increases blood pressure and blood sugar levels and suppresses the immune system. ... Steroid hormones are steroids which act as hormones. ... Adrenocorticotropic hormone (ACTH or corticotropin) is a polypeptide hormone synthesised (from POMC, pre-opiomelanocortin) and secreted from corticotropes in the anterior lobe of the pituitary gland in response to the hormone corticotropin-releasing hormone (CRH) released by the hypothalamus. ... A steroid is a lipid characterized by a carbon skeleton with four fused rings. ...

Cortisol deficiency in CAH is usually partial, and not the most serious problem for an affected person. Synthesis of cortisol shares steps with synthesis of mineralocorticoids such as aldosterone, androgens such as testosterone, and estrogens such as estradiol. The resulting excessive or deficient production of these three classes of hormones produce the most important problems for people with CAH. Specific enzyme inefficiencies are associated with characteristic patterns of over- or underproduction of mineralocorticoids or sex steroids. Mineralocorticoids is a class of steroids characterised by their similarity to aldosterone and their influence on salt and water metabolism. ... Aldosterone is a steroid hormone synthesized from cholesterol by the enzyme aldosterone synthase. ... Androgen is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. ... Testosterone is a steroid hormone from the androgen group. ... Estrogens (also oestrogens) are a group of steroid compounds, named for their importance in the oestrus cycle, functioning as the primary female sex hormone. ... Estradiol (17-beta estradiol) (also oestradiol) is a sex hormone. ... A sex steroid is a steroid hormone which interacts with vertebrate androgen or estrogen receptors. ...

In all its forms, congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for about 95% of diagnosed cases of CAH. Unless another specific enzyme is mentioned, "CAH" in nearly all contexts refers to 21-hydroxylase deficiency. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ...

• Severe 21-hydroxylase deficiency causes salt-wasting CAH, with life-threatening vomiting and dehydration occurring within the first weeks of life. Severe 21-hydroxylase deficiency is also the most common cause of ambiguous genitalia due to prenatal virilization of genetically female (XX) infants.
• Moderate 21-hydroxylase deficiency is referred to as simple virilizing CAH; and typically is recognized by causing virilization of prepubertal children.
• Still milder forms of 21-hydroxylase deficiency are referred to as non-classical CAH and can cause androgen effects and infertility in adolescent and adult women.

CAH due to deficiencies of other enzymes than 21-hydroxylase present many of the same management challenges as 21-hydroxylase deficiency, but some involve mineralocorticoid excess or sex steroid deficiency. Dehydration is the removal of water (hydor in ancient Greek) from an object. ... An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ... In biology and medicine, virilization refers to the development of changes which make a male body different from a female body. ... Androgen is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. ... Infertility is the inability to naturally conceive a child or the inability to carry a pregnancy to term. ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ... Mineralocorticoids is a class of steroids characterised by their similarity to aldosterone and their influence on salt and water metabolism. ... A sex steroid is a steroid hormone which interacts with vertebrate androgen or estrogen receptors. ...

• Lipoid congenital adrenal hyperplasia
• Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
• Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
• Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Further variability is introduced by the degree of enzyme inefficiency produced by the specific alleles each patient has. Some alleles result in more severe degrees of enzyme inefficiency. In general, severe degrees of inefficiency produce changes in the fetus and problems in prenatal or perinatal life. Milder degrees of inefficiency are usually associated with excessive or deficient sex hormone effects in childhood or adolescence, while the mildest form of CAH interferes with ovulation and fertility in adults. Lipoid congenital adrenal hyperplasia refers to an uncommon form of CAH resulting from defects in the earliest stages of adrenal cortisol synthesis: the transport of cholesterol into the mitochondria of the cells of the adrenal cortex and the conversion to pregnenolone. ... Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme P450c17, which mediates several key transformations in the synthesis of both cortisol and sex steroids. ... 3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3βHSD CAH) is an uncommon form of CAH resulting from a defective gene for one of the key enzymes in cortisol synthesis by the adrenal glands. ... 11β-Hydroxylase deficient congenital adrenal hyperplasia is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme which mediates the final step of cortisol synthesis in the adrenal. ... Ribbon diagram of the enzyme TIM. TIM is catalytically perfect, meaning its conversion rate is limited, or nearly limited to its substrate diffusion rate. ... An allele is any one of a number of viable DNA codings of the same gene (sometimes the term refers to a non-gene sequence) occupying a given locus (position) on a chromosome. ... A sex steroid is a steroid hormone which interacts with vertebrate androgen or estrogen receptors. ... Fertility is the ability of people or animals to produce healthy offspring in abundance. ...

Finally, specific problems may also differ with the genetic sex of the affected person. For example, the most common type of CAH, due to deficient 21-hydroxylase activity, can produce ambiguous genitalia in XX fetuses but not XY. This article is about biological sexes — male, female, etc. ... An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ...

Treatment of all forms of CAH may include any of:

1. supplying enough glucocorticoid to reduce hyperplasia and overproduction of androgens or mineralocorticoids
2. providing replacement mineralocorticoid and extra salt if the person is deficient
3. providing replacement testosterone or estrogen at puberty if the person is deficient
4. additional treatments to optimize growth by delaying puberty or delaying bone maturation
5. genital reconstructive surgery to correct problems produced by abnormal genital structure

All of these management issues are discussed in more detail in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Glucocorticoids are a class of steroid hormones characterised by an ability to bind with the cortisol receptor and trigger similar effects. ... Androgen is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. ... Mineralocorticoids is a class of steroids characterised by their similarity to aldosterone and their influence on salt and water metabolism. ... Testosterone is a steroid hormone from the androgen group. ... Estrogens (also oestrogens) are a group of steroid compounds, named for their importance in the oestrus cycle, functioning as the primary female sex hormone. ... Bone age is a way of describing the degree of maturation of a childs bones. ... Genital reconstructive surgery refers to surgery performed on the genitalia of infants, children, or adults for the purpose of correcting birth defects or other anatomic abnormalities, or for the purpose of transforming normal genitalia of one sex into genitalia resembling the other sex. ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ...

Genetics

All involved genes are autosomal. See Table 1 for chromosomal locations. This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... Figure 1: Chromosome. ...

Because they code for enzymes with amplifiable activity, noticeable effects only occur in people with two defective alleles of these genes. Hundreds of different allelic mutations of these genes have been reported. Nearly always, each parent of an affected person is an unaffected heterozygote (i.e., asymptomatic carrier of one defective gene and one normal gene and has no ill effects). Each child of that pair of parents has a 25% chance of being affected, "having CAH". Prenatal diagnosis and heterozygote detection are now possible. Ribbon diagram of the enzyme TIM. TIM is catalytically perfect, meaning its conversion rate is limited, or nearly limited to its substrate diffusion rate. ... An allele is any one of a number of viable DNA codings of the same gene (sometimes the term refers to a non-gene sequence) occupying a given locus (position) on a chromosome. ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... In biology, mutations are changes to the genetic material (usually DNA or RNA). ... Heterozygotic cells are diploid or polyploid and have different alleles at a locus (position) on homologous chromosomes. ... An asymptomatic carrier (or carrier), is a person who is infected with the agent of an infectious disease, or carries the abnormal gene of a recessive genetic disorder. ... Prenatal diagnosis is the diagnosis of disease or condition in a fetus or embryo before it is born. ...

Although mutations leading to the various forms of CAH have been found all over the world, there are substantial differences in the carrier rates of specific abnormal alleles in different regions and ethnic groups.

Biochemistry

Enzymatic pathway for biosynthesis of cortisol and aldosterone, beginning with cholesterol. Italics denote enzymes.

Accumulation of progesterone and 17-hydroxyprogesterone as a result of a 21-hydroxylase deficiency. Italics denote enzymes.

Abbreviations: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... Progesterone is a C-21 steroid hormone involved in the female menstrual cycle, pregnancy (supports gestation) and embryogenesis of humans and other species. ... Lipoid congenital adrenal hyperplasia refers to an uncommon form of CAH resulting from defects in the earliest stages of adrenal cortisol synthesis: the transport of cholesterol into the mitochondria of the cells of the adrenal cortex and the conversion to pregnenolone. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... Cholesterol chemical structure Cholesterol is a sterol (a combination steroid and alcohol) and a lipid found in the cell membranes of all body tissues, and transported in the blood plasma of all animals. ... Cholesterol chemical structure Cholesterol is a sterol (a combination steroid and alcohol) and a lipid found in the cell membranes of all body tissues, and transported in the blood plasma of all animals. ... Pregnenolone is a steroid hormone involved in the steroidogenesis of progesterone, mineralocorticoids, glucocorticoids, androgens, and estrogens. ... Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme P450c17, which mediates several key transformations in the synthesis of both cortisol and sex steroids. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... Pregnenolone is a steroid hormone involved in the steroidogenesis of progesterone, mineralocorticoids, glucocorticoids, androgens, and estrogens. ... Progesterone is a C-21 steroid hormone involved in the female menstrual cycle, pregnancy (supports gestation) and embryogenesis of humans and other species. ... Dehydroepiandrosterone (DHEA) is a natural steroid hormone produced from cholesterol by the adrenal glands. ... 3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3βHSD CAH) is an uncommon form of CAH resulting from a defective gene for one of the key enzymes in cortisol synthesis by the adrenal glands. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... Pregnenolone is a steroid hormone involved in the steroidogenesis of progesterone, mineralocorticoids, glucocorticoids, androgens, and estrogens. ... Dehydroepiandrosterone (DHEA) is a natural steroid hormone produced from cholesterol by the adrenal glands. ... Progesterone is a C-21 steroid hormone involved in the female menstrual cycle, pregnancy (supports gestation) and embryogenesis of humans and other species. ... Androstenedione is a 19-carbon steroid hormone produced in the adrenal glands and the gonads as an intermediate step in the biochemical pathway that produces the androgen testosterone and the estrogens estrone and estradiol. ... 11β-Hydroxylase deficient congenital adrenal hyperplasia is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme which mediates the final step of cortisol synthesis in the adrenal. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... Cortisol is a corticosteroid hormone that is involved in the response to stress; it increases blood pressure and blood sugar levels and suppresses the immune system. ... Corticosterone is a 21 carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands. ...

• OMIM no. is Online Mendelian Inheritance in Man index number
• StAR is steroidogenic acute regulatory protein
• HSD is hydroxysteroid dehydrogenase.
• P450scc is cytochrome P450 side chain cleavage enzyme.
• 17OH-progesterone and 17OHP are 17-hydroxyprogesterone.
• 17OH-pregnenolone is 17-hydroxypregnenolone
• DHEA is dehydroepiandrosterone.
• DOC is deoxycorticosterone.

Since the 1960s most endocrinologists have referred to the forms of CAH by the traditional names in the left column, which generally correspond to the deficient enzyme activity. As exact structures and genes for the enzymes were identified in the 1980s, most of the enzymes were found to be cytochrome P450 oxidases and were renamed to reflect this. In some cases, more than one enzyme was found to participate in a reaction, and in other cases a single enzyme mediated in more than one reaction. There was also variation in different tissues and mammalian species. The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... Cytochromes are generally membrane-bound proteins that contain heme groups and carry out electron transport or catalyse reductive/oxidative reactions. ... It has been suggested that this article or section be merged with Prasterone. ... Cytochrome P450 Oxidase (CYP2E1) Cytochrome P450 oxidase (commonly abbreviated CYP) is a generic term for a large number of related, but distinct, oxidative enzymes (EC 1. ...

History

An Italian anatomist, Luigi De Crecchio provided the earliest known description of a case of probable CAH. I propose in this narrative that it is sometimes extremely difficult and even impossible to determine sex during life. In one of the anatomical theaters of the hospital..., there arrived toward the end of January a cadaver which in life was the body of a certain Joseph Marzo... The general physiognomy was decidedly male in all respects. There were no feminine curves to the body. There was a heavy beard. There was some delicacy of structure with muscles that were not very well developed... The distribution of pubic hair was typical of the male. Perhaps the lower extremities were somewhat delicate, resembling the female, and were covered with hair... The penis was curved posteriorly and measured 6 cm, or with stretching, 10 cm. The corona was 3 cm long and 8 cm in circumference. There was an ample prepuce. There was a first grade hypospadias... There were two folds of skin coming from the top of the penis and encircling it on either side. These were somewhat loose and resembled labia majora. De Crecchio then described the internal organs, which included a normal vagina, uterus, tubes, and ovaries. It was of the greatest importance to determine the habits, tendencies, passions, and general character of this individual... I was determined to get as complete a story as possible, determined to get at the base of the facts and to avoid undue exaggeration which was rampant in the conversation of many of the people present at the time of the dissection. He interviewed many people and satisfied himself that Joseph Marzo "conducted himself within the sexual area exclusively as a male," even to the point of contracting the "French disease" on two occasions. The cause of death was another in a series of episodes of vomiting and diarrhea. Anatomical drawing of the human muscles from the Encyclopédie. ... Pubic hair is hair in the frontal genital area, the crotch, and sometimes at the top of the inside of the legs; these areas form the pubic region. ... The penis (plural penises or penes) or phallus is an external male sexual organ. ... The glans (literally, Latin for acorn) is a structure internally composed of corpus spongiosum in males or of corpus cavernosa and vestibular tissue in females that is located at the tip of homologous genital structures involved in sexual arousal. ... The Male Anatomy The foreskin or prepuce is a retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. ... Hypospadias is a birth defect of the urethra in the male that involves an abnormally placed urethral meatus (opening). ... Parts of a vulva The external genital organs of the female are collectively known as the vulva (also sometimes called the pudenda). ... Human female internal reproductive anatomy. ... Female internal reproductive anatomy The uterus or womb is the major female reproductive organ of most mammals, including humans. ... Female internal reproductive anatomy The Fallopian tubes or oviducts are two very fine tubes leading from the ovaries of female mammals into the uterus. ... Human female internal reproductive anatomy Ovaries are egg-producing reproductive organs found in female organisms. ... Syphilis (historically called lues) is a sexually transmitted disease (STD) that is caused by a spirochaete bacterium, Treponema pallidum. ...

This account, translated by Alfred Bongiovanni from De Crecchio (Sopra un caso di apparenzi virili in una donna. Morgagni 7:154-188, 1865), contains nearly all the important themes and issues. Were this man's male gender identity, role, and orientation determined by his anatomy, by his testosterone, or by his sex of rearing? His presumed female chromosomes and gonads obviously did not make him female. Yet despite his careful documentation of Marzo's unambiguous social role, De Crecchio rejects his male identity and describes him as "una donna," revealing the 19th century assumption that a person's "true sex" can be determined by inspection of internal organs. Then as now, such a case prompted "undue exaggeration" and much "conversation." And then as now, we see the conflict between the desire of the scientist to learn and understand, and the sense of violation of poor Joseph Marzo's privacy. Finally, were the episodes of vomiting and diarrhea the salt-wasting of CAH? This article does not cite its references or sources. ... A bagpiper in Scottish military clan-uniform. ... Sexual orientation refers to the sex, sexes, gender or genders, to which a person is attracted and which form the focus of a persons amorous or erotic desires, fantasies, and spontaneous feelings. ... Testosterone is a steroid hormone from the androgen group. ... Gender of rearing is the gender in which parents rear a child. ... Figure 1: Chromosome. ... The gonad is the organ that makes gametes. ...

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 of our 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. The Johns Hopkins University is an internationally prestigious private institution of higher learning located in Baltimore, Maryland. ... This article is about the city in the US state of Maryland. ... Pediatric endocrinology is a medical subspecialty dealing with variations of physical growth and sexual development in childhood, as well as diabetes and other disorders of the endocrine glands. ... Karyogram of human male A karyotype is the complete set of all chromosomes of a cell of any living organism. ... An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ... John Money, Ph. ... An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ...

Hydrocortisone, fludrocortisone, and prednisone were available by the late 1950s. By 1980 all of the relevant steroids could be measured in blood by reference laboratories for patient care. By 1990 nearly all specific genes and enzymes had been identified. Hydrocortisone is a synthetic corticosteroid drug which may be given by injection or by topical application. ... Fludrocortisone acetate is a synthetic corticosteroid with moderate glucocorticoid potency and much greater mineralocorticoid potency. ... Prednisone is a synthetic corticosteroid drug which is usually taken orally and can be used for a large number of different conditions. ...

However, the last decade has seen a number of new developments, discussed more extensively in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ...

1. debate over the value of genital reconstructive surgery and changing standards
2. debate over sex assignment of severely virilized XX infants
3. new treatments to improve height outcomes
4. newborn screening programs to detect CAH at birth
5. increasing attempts to treat CAH before birth

Genital reconstructive surgery refers to surgery performed on the genitalia of infants, children, or adults for the purpose of correcting birth defects or other anatomic abnormalities, or for the purpose of transforming normal genitalia of one sex into genitalia resembling the other sex. ... Sex assignment refers to the assigning of sex at the birth of a baby. ... Newborn screening is the process of testing newborn babies for treatable genetic, endocrinologic, metabolic and hematologic diseases. ...

See also

• Intersex and Ambiguous genitalia
• Adrenal insufficiency

An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ... An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ... In medicine, adrenal insufficiency (or hypocortisolism) is the inability of the adrenal gland to produce adequate amounts of cortisol in response to stress. ...

External links

• Guide to Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency for parents or patients from Johns Hopkins
• CARES Foundation: Congenital Adrenal Research, Education, and Support
• A more advanced discussion of 21-hydroxylase deficiency by an eminent researcher of the disease.