[15] If a male infant with CAH goes undetected during newborn screening, he will exhibit normal health and physical appearance upon examination, leading to his timely discharge from the hospital.

Furthermore, infants with salt-wasting CAH may experience even worse symptoms like vomiting, and extreme dehydration, and their circulation can suddenly fail (which is called circulatory shock) within two or three weeks after birth.

[23] Despite the severity of this condition, affected infants respond swiftly to treatment involving hydrocortisone administration along with intravenous infusion of saline solution and dextrose supplementation.

[73] Subsequently, male subjects with nonclassic CAH rarely present with TARTs, and even though these tumors do not affect fertility and do not require regular ultrasound examination of the scrotum.

The complex issues encountered in appropriate sex assignment for severely virilized XX infants have contributed to a deeper understanding of gender identity and sexual orientation.

[80][77] The first questions about assignment were raised in the early 1980s when Money and others reported an unexpectedly high rate of failure to achieve normal adult sexual relationships (i.e., heterosexual orientation, marriage, and children) in grown women with CAH (though all had female gender identities).

However, the sample was small, and results seemed interpretable in many ways: selection bias, early hormone effects on orientation, or sexual dysfunction created by residual body abnormalities or by the genital surgery itself.

The usual clues to central puberty in boys are that the testes are pubertal in size, or that androgens of adrenal origin remain elevated even when the 17OHP has been reduced toward normal.

[105][106][107] As outlined above, recent additions to treatment to preserve growth include aromatase inhibition to slow bone maturation by reducing the amount of testosterone converted to estradiol, and the use of blockers of estrogen for the same purpose.

[136][137][138] Inheritance of all forms of 21-hydroxylase CAH is autosomal recessive,[4] except some mild disease-causing variants such as p.V281L that seem to exert dominant negative effects on enzymatic activity.

In the last decade, more states and countries have adopted newborn screening for salt-wasting CAH due to 21-hydroxylase deficiency, which leads to death in the first month of life if not recognized.

[163][57] While the 17OHP level is easy to measure and sensitive (rarely missing real cases), the test has a poorer specificity, giving high rates of false positives.

17OHP steroid precursors and their sulphated conjugates which are present in the first two days after birth in healthy infants and longer in pre-term neonates, cross-react in immunoassays with 17OHP, giving falsely high 17OHP levels.

[195] Theoretically, if enough glucocorticoid could be supplied to the fetus to reduce adrenal androgen biosynthesis by the 9th week, virilization could be prevented and the difficult decision about timing of surgery avoided.

[193][196] The challenge of preventing severe virilization of girls is twofold: detection of CAH at the beginning of the pregnancy, and delivery of an effective amount of glucocorticoid to the fetus without causing harm to the mother.

A 2007 Swedish clinical trial found that treatment may cause cognitive and behavioural defects, but the small number of test subjects means the study cannot be considered definitive.

A 2012 American study found no negative short-term outcomes, but "lower cognitive processing in CAH girls and women with long-term dexamethasone exposure.

[204] The treatment has also raised concerns in LGBT and bioethics communities following the publication of an essay posted to the forum of the Hastings Center, and research in the Journal of Bioethical Inquiry, which found that pre-natal treatment of female fetuses was suggested to prevent those fetuses from becoming lesbians after birth, may make them more likely to engage in "traditionally" female-identified behaviour and careers, and more interested in bearing and raising children.

Citing a known attempt by a man using his knowledge of the fraternal birth order effect to avoid having a homosexual son by using a surrogate, the essayists (Professor Alice Dreger of Northwestern University's Feinberg School of Medicine, Professor Ellen Feder of American University and attorney Anne Tamar-Mattis) suggest that prenatal dexamethasone treatments constitute the first known attempt to use in utero protocols to reduce the incidence of homosexuality and bisexuality in humans.

Even these four studies were of low quality ... in ways so slipshod as to breach professional standards of medical ethics"[206] and "there were no data on long-term follow-up of physical and metabolic outcomes in children exposed to dexamethasone".

As current glucocorticoid therapy regiments fail to replicate the physiologic circadian rhythm and the glucocorticoids are often administered at a higher dose to treat androgen excess, the long-term consequences of the therapy, such as decreased bone density and an increased cardiometabolic risk profile,[99] should be addressed; other consequences of CAH such as impaired quality of life and affected mental health should be taken into consideration; periodic assessments and monitoring of patients should take place in specialized centers to detect and treat potential complications early.

[136] Clinical studies are underway to find ways to better mimic the normal circadian rhythm of cortisol secretion and to reduce the total dose of glucocorticoids.

While a boy (or girl) with simple virilizing CAH is taller than peers at that point, he will have far fewer years remaining to grow and may go from being a very tall 7-year-old to a 62-inch 13-year-old who has completed growth.

[4] Classical CAH has little effect on male fertility unless an adult stops taking his glucocorticoid medication entirely for an extended time, in which case excessive adrenal androgens may reduce testicular production as well as spermatogenesis.

[4] Girls and women with CAH constitute the majority of genetic females with normal internal reproductive hormones who have been exposed to male levels of androgens throughout their prenatal lives.

[4] Fertility is possible for both males and females with CAH but may be reduced due to multiple factors encompassing biology, psychology, social influences, and sexual aspects.

[236] In 1950, Wilkins, Bartter, and Albright revolutionized clinical endocrinology with the use of cortisone to treat CAH and ushered in a productive era of pediatric adrenal research.

[240] Leonard Sax, an American psychologist and a family physician, criticized these figures in a review published in 2002 in The Journal of Sex Research, stating that from the clinician's perspective, nonclassical CAH is not an intersex condition.

[245] Including nonclassical CAH in intersex prevalence estimates has been cited by Joel Best, a professor of sociology and criminal justice, in a 2013 book "Stat-Spotting: A Field Guide to Identifying Dubious Data" as an example of misleading statistical practice.

Individuals with visible differences or unique health needs associated with CAH may face social stigmatization due to a lack of awareness, prejudice, or preconceived notions about intersexuality.