II. Definition

  1. Inherited Adrenal Insufficiency onset at birth

III. Pathophysiology

  1. Autosomal Recessive inheritance
  2. Group of defective enzymes in Cortisol Synthesis
    1. Six different enzyme deficiencies possible
    2. See Steroid Hormone Pathway
    3. 21-Hydroxylase deficiency is most common (90%)

IV. Types

  1. Complete Enzyme Deficiency (Classic, Salt-losing)
    1. Onset as newborn with adrenal crisis by 2 weeks old (as maternal cortisol wanes)
    2. Most common cause of Ambiguous Genitalia in females
      1. Female genitalia are more significantly affected than male genitalia
      2. Females are therefore typically diagnosed in newborn nursery (as opposed to boys who present later)
  2. Partial Enzyme Deficiency (Simple virilizing)
    1. Adrenal Insufficiency occurs only as stress reaction
    2. Causes Androgen Excess in later childhood
      1. Precocious Puberty
      2. Hirsutism
      3. Acne Vulgaris

V. Symptoms: Presenting

  1. Vomiting
  2. Lethargy
  3. Decreased oral intake

VII. Diagnosis

  1. Classic (complete deficiency) type in newborns
    1. 17-Hydroxyprogesterone increased
  2. Non-classic (Partial deficiency) type in children
    1. 17-Hydroxyprogesterone increased 1 hour post-ACTH

VIII. Labs

  1. Serum electrolytes
    1. Hyponatremia
    2. Hypochloremia
    3. Hyperkalemia
    4. Hypoglycemia
  2. Adrenal labs
    1. Low cortisol
    2. Low Aldosterone
    3. High renin
  3. Sex hormone abnormalities depend on enzyme deficiency
    1. Virilizing if 21-Hydroxylase or 11-Hydroxylase
    2. Testosterone increased in girls
    3. Androstenedione increased in girls and boys

IX. Diagnostics

  1. Electrocardiogram (EKG)
    1. Indicated for Hyperkalemia

X. Management: Initial priorities

  1. Rehydration with Normal Saline in small boluses (10 cc/kg)
  2. Correct Hypoglycemia
  3. Hydrocortisone IV

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Ontology: Congenital adrenal hyperplasia (C0001627)

Definition (MSH) A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.
Definition (NCI) A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells.
Definition (CSP) group of syndromes caused by inherited defects in cortisol and/or aldosterone biosynthesis; ACTH elevation is caused by low levels of cortisol, whose production is impaired by absence or deficiency of one of the five enzymes necessary for its synthesis from cholesterol.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D000312
ICD10 E25.0
SnomedCT 237751000, 27037004
LNC LP56767-4, MTHU021596
English Adrenal Hyperplasia, Congenital, Adrenal Hyperplasias, Congenital, Congenital Adrenal Hyperplasia, Congenital Adrenal Hyperplasias, Hyperplasia, Congenital Adrenal, Hyperplasias, Congenital Adrenal, CAH-Congenit adren hyperplasia, Congenital Adrenal Gland Hyperplasia, HYPERPLASIA CONGEN ADRENAL, ADRENAL HYPERPLASIA CONGEN, CONGEN ADRENAL HYPERPLASIA, congenital adrenal hyperplasia (diagnosis), congenital adrenal hyperplasia, Adrenal Hyperplasia, Adrenal Hyperplasia, Congenital [Disease/Finding], hyperplasia congenital adrenal, adrenal congenital hyperplasia, hyperplasia adrenal congenital, Adrenogenital Syndrome, Adrenogenital Disorder, CAH - Congenital adrenal hyperplasia, Congenital adrenal hyperplasia (disorder), Congenital adrenal hyperplasia, hyperplasia; adrenal, congenital, adrenal; hyperplasia, congenital, Congenital adrenal hyperplasia, NOS
Dutch congenitale bijnierhyperplasie, bijnier; hyperplasie, congenitaal, hyperplasie; bijnier, congenitaal, Bijnierhyperplasie, congenitale, Congenitale bijnierhyperplasie, Hyperplasie, congenitale bijnier-
French Hyperplasie surrénalienne congénitale, Hyperplasie surrénale congénitale, Hyperplasie congénitale des surrénales
German kongenitale adrenale Hyperplasie, Adrenale Hyperplasie, kongenitale, Kongenitale adrenale Hyperplasie, kongenitale Nebennierenrindenhyperplasie, Nebennierenrindenhyperplasie, kongenitale
Portuguese Hiperplasia supra-renal congénita, Hiperplasia Suprarrenal Congênita
Spanish Hiperplasia congénita de las glándulas suprarrenales, hiperplasia adrenal congénita, hiperplasia suprarrenal congénita (trastorno), hiperplasia suprarrenal congénita, Hiperplasia Suprarrenal Congénita
Swedish Binjurebarkshyperplasi, medfödd
Japanese センテンセイフクジンカケイセイ, 先天副腎過形成, 副腎皮質過形成-先天性, 副腎皮質過形成, 先天性副腎皮質過形成, 先天性副腎過形成症, 先天性副腎過形成, 副腎過形成-先天性
Czech kongenitální adrenální hyperplazie, nadledviny - hyperplazie kongenitální, Vrozená adrenální hyperplazie
Finnish Synnynnäinen lisämunuaisten liikakasvu
Russian NADPOCHECHNIKOV GIPERPLAZIIA VROZHDENNAIA, НАДПОЧЕЧНИКОВ ГИПЕРПЛАЗИЯ ВРОЖДЕННАЯ
Croatian NADBUBREŽNA ŽLIJEZDA, HIPERPLAZIJA, PRIROĐENA, NADBUBREŽNA ŽLIJEZDA, HIPERPLAZIJA, KONGENITALNA
Polish Przerost nadnerczy wrodzony
Hungarian Veleszületett adrenalis hyperplasia
Norwegian Medfødt binyrebarkhyperplasi, Kongenitt binyrebarkhyperplasi, Kongenital binyrebarkhyperplasi
Italian Iperplasia surrenale congenita