sepsis )! References: [4] [7] [9] [12] [amboss.com]

Frequently, presenting males are assumed to have sepsis or pyloric stenosis. The major clinical indication of CAH is the presence of pigmented genitalia and nature of the electrolyte disturbance. [bettersafercare.vic.gov.au]

Benefits with an Endocrine Related Disorder - PEDIATRIC Patients » Helpful information about Applying for Disability Benefits with an Endocrine Related Disorder - ADULT Patients » Click here for member benefits or to join The MAGIC Foundation » "LIKE [magicfoundation.org]

Too little steroid hormone replacement results in high androgen levels with all its complications in addition to which patients have the symptoms of adrenal insufficiency such as fatigue and a risk of adrenal crisis. [diurnal.co.uk]

Clinical features of 21-hydroxylase deficiency Acute adrenal insufficiency Due to lack of cortisol and aldosterone High blood pressure Salt-craving Dehydration Vomiting Genital ambiguity Due to excess androgens Affects females only Known as ‘female pseudohermaphroditism [dermnetnz.org]

Patients may complain of salt craving and lightheadedness due to dehydration. Excessive fludrocortisone treatment can lead to hypertension that is often asymptomatic in the pediatric population. [clinchem.aaccjnls.org]

Body composition, bone density and fractures Glucocorticoids increase the fat mass and reduce muscle mass and bone density, while androgens have the opposite effect. [tidsskriftet.no]

Use of oral corticosteroids and risk of fractures. J Bone Miner Res. (2000) 15:993–1000. doi: 10.1359/jbmr.2000.15.6.993 PubMed Abstract CrossRef Full Text Google Scholar 46. Nebesio TD, Renbarger JL, Nabhan ZM, Ross SE, Slaven JE, Li L, et al. [frontiersin.org]

Manifestations seen in females are hirsutism, acne, anovulation and menstrual irregularities. Males (and some females) are asymptomatic. Hirsutism continues in adulthood and women can suffer from chronic anovulation and fertility problems. [orpha.net]

Tabs Content Clinical Overview Diagnosis Indications for Testing Ambiguous genitalia or unexplainable electrolyte results in infancy Premature sexual development in older children Hirsutism and irregular menses in adult females Laboratory Testing Initial [arupconsult.com]

Also useful as part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH. [mayocliniclabs.com]

Symptoms include hirsutism, acne, androgenic alopecia, anovulation, menstrual dysfunction, and infertility. In a multicenter study, the most common symptoms among adolescent and adult women were hirsutism (59%), oligomenorrhea (54%), and acne (33%). [frontiersin.org]

In addition to the growth of male body hair (hirsutism), a change in voice can also occur. Patients do not reach female puberty and therefore suffer from amenorrhea and infertility. [lecturio.com]

Too much steroid hormone results in suppression of growth in children, weight gain, abdominal obesity, hypertension, thin skin, and later in life the risk of cardiovascular disease and osteoporosis. [diurnal.co.uk]

libido Accelerated bone age Absent or irregular menstrual periods Male pattern of hair growth ( hirsutism ) Oily skin ( seborrhoea ) Acne Androgenetic alopecia Late-onset in males Premature puberty Accelerated bone age Enlargement of testes, due to adrenal [dermnetnz.org]

[…] some suggest limb width greater than 4 mm and length greater than 20 mm) wrinkled surface of adrenals cerebriform pattern of the adrenal glands : characteristic sign normal ultrasound appearances may also be seen testicular masses may be identified representing [radiopaedia.org]

In adolescent boys, poor CAH control can cause growth of testicular masses that resemble adrenal tissue, called testicular adrenal rests (TART). [chop.edu]

Adult gonadal function depends on adequate adherence to treatment; ovarian dysfunction in women and testicular masses in men worsen when adherence is poor. [analesdepediatria.org]

Aldosterone deficiency can lead to salt wasting, hyponatremia, and hyperkalemia. [msdmanuals.com]

[…] classic CAH If nonclassic form is suspected in adult female, obtain 17-OHP at 0800 hours and during follicular phase of menstrual cycle Further evaluation should include assessment of salt wasting Serum sodium, potassium, and renin activity – expect hyponatremia [arupconsult.com]

Management is as follows: Patients with dehydration, hyponatremia, or hyperkalemia and a possible salt-wasting form of CAH should receive an IV bolus of isotonic sodium chloride solution (20 mL/kg or 450 mL/m 2 ) over the first hour, as needed, to restore [emedicine.medscape.com]

Aldosterone deficiency leads to Hyponatremia and Hyperkalemia. Cortisol deficiency leads to poor cardiac function, general insensitivity to catecholamines, and increased secretion of antidiuretic hormone. [pedemmorsels.com]

You should check a basic metabolic panel to assess for hyponatremia, hyperkalemia, acidosis, and hypoglycemia, which can be associated with adrenal insufficiency and salt wasting. [childrenscolorado.org]