Congenital adrenal hyperplasia

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      • Etiology and pathophysiology.
        • Caused by a defect in one of the enzymes (21-hydroxylase or 11-beta-hydroxylase) necessary for the synthesis of cortisol.
        • Cortisol deficiency stimulates ACTH, which results in overproduction of steroid precursors in the early parts of the blocked pathway.
        • One of these, 17-hydroxyprogesterone, is converted to adrenal androgens, resulting in virilization.
        • Patients with 21-hydroxylase deficiency may develop salt wasting due to decreased production of mineralocorticoids
        • Patients with 11-beta-hydroxylase deficiency may develop hypertension may due to accumulation of steroid precursors with mineralocorticoid effects

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  • Clinical features
    • Androgen excess is caused by increased adrenal production of dehydroepiandrosterone, androstenedione, and testosterone.
    • If present during fetal development, this disorder may cause ambiguous genitalia in female infants.
    • If androgen excess is manifested in the postnatal period, it may cause virilization in prepubertal girls or in young women.
    • In male infants, the consequence of androgen excess during fetal development is macro genitosomia. In the postnatal period, the consequence is precocious puberty.
    • The cortisol deficit usually does not cause major clinical manifestations, because the ACTH stimulation and adrenal hyperplasia maintain cortisol levels in the low-normal range, despite the enzyme deficiency.
    • 21-Hydroxylase deficiency
      • accounts for 95% of cases of adrenal hyperplasia.
      • In the mild (simple virilizing) form, only the androgen-excess symptoms are of
      • importance.
      • In the severe (salt-losing) form, the production of aldosterone is impaired, as well as
      • that of cortisol; mineralocorticoid deficiency leads to hyponatremia, hyperkalemia, dehydration, and hypotension.
    • 11-hydroxylase deficiency
      • deoxycorticosterone, a mineralocorticoid, as well as adrenal androgens are overproduced.
      • This causes hypertension through mechanisms that are similar to those causing hypertension in primary aldosteronism.
    • 17-hydroxylase deficiency
      • deoxycorticosterone is overproduced, resulting in hypertension.
      • However, because 17-hydroxylase is necessary for sex steroid synthesis, there is androgen deficiency as well as estrogen deficiency.
      • This causes the development of ambiguous genitalia in male infants and primary amenorrhea in women.
  • Diagnosis.
    • Concentrations of adrenal androgens and precursors of cortisol are increased in blood and urine.
    • The most useful measurements are of blood testosterone, androstenedione, dehydroepiandrosterone, and 17-hydroxyprogesterone (a cortisol precursor), as well as urinary 17-ketosteroids and pregnanetriol (a metabolite of 17-hydroxyprogesterone).
  • Medical therapy
    • Cortisol administration suppresses the over production of ACTH and adrenal androgens.
    • In the salt-losing syndrome, mineralocorticoid replacement with fludrocortisone may be necessary.
  • Surgery.
    • Reconstructive surgery of the external genitalia in female infants is done in the first few years of life.


Easy Congenital Adrenal Hyperplasia Mnemonic
This should help you ans most of the questions on congenital adrenal hyperplasia. Very easy mnemonic
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Congenital Adrenal Hyperplasia | Mnemonic
This video is for medical students to make learning easy, a weired mnemonic is made to make you remember. Cholesterol is converted to pregnenolone, which is converted to progesterone, which is further converted to 17, OH Prosterone. This prosterone has two fates, in presence of 21 OH, it is converted to Deoxycorticosole, while in absence of 21 OH, it is converted to testosterone. For better explanation watch the video. This video will help you to understand, how precoccious puberty develops in males and how ambigous genitalia forms in males and females
Edited talk about Congenital Adrenal Hyperplasia by Maria Henwood-Finley, D.O.
Ambiguity of Genitalia is Caused by DISEASE
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Clinical and Exam Preparation Instructor
Board Certified in Internal Medicine, Pulmonary Disease, Critical Care, and Sleep Medicine.