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Congenital Adrenal Hyperplasia

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Inheritance pattern of congenital adrenal hyperplasia ?   * auto recessive - see an adrenal enzyme deficiency    
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The 4 enzyme deficiencies to be discussed ?   *21-Hydroxylase- -11-b-Hydroxylase- -17-a-Hydroxylase- -3-b-H-steroid hydrogenase    
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Phenotype of the baby is determined by ?   *degree or type of gene deletion or mutation ...some have full inactivity, while some are partially lost    
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What we see as a result with CAH when babies are born ?   * genital ambiguity    
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** Know the steroidogenesis chart **   .    
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Enzyme wise, what do we see with CAH ?   * The enzyme deficiency causes reduction in end-products, accumulation of hormone precursors & increased ACTH production *inadequate production of cortisol & aldosterone and the increased production of androgens & steroid metabolites    
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The primary endogenous mineralocorticoid is ? And its actions ?   * Aldosterone - reabsorption of Na and H20, as well as K secretion -->increase bd volume/pressure    
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Most common type of CAH and we see mineralcorticoid and glucocorticoid deficiency ?   * 21-Hydroxylase Def.    
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Heterozygous carriers can be detected by ?   * ACTH stimulation test    
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21-Hydrxylase Def It is characterized by ?   * by reduced production of cortisol and aldosterone and increased production of progesterone, 17-OH-progesterone, and sex steroids --> shifts everything to sex steroids    
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What we see in complete 21-Hydroxylase Deficiency ?   * salt loss -with hyponatremia and hyperkalemia; plasma renin activity is therefore elevated --> due to aldosterone def.....Girls are usually recognized at birth because of ambiguous genitalia    
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21-Hydroxylase Deficiency partial 21-Hydroxylase Deficiency ?   * non-salt loss -aldosterone deficiency is not expressed, and patients remain normonatremic and normokalemic------> *But still the excess androgens causes virilization of girls & ambiguous genitalia & dark scrotum in boys    
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Classic vs Non-classic forms of 21-Hydroxylase Def ?   *Classic --early virilization type with or without salt-losing crisis ...... *non-classic--late-onset (elementary-puberty age) virilization    
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Male babies with non salt-losing non-classic type ?   * asymptomatic till late childhood when they may show signs of sexual precocity    
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Neonatal Screening test to test for 21-hydroxylase def.?   * 17-OH-Progesterone    
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11-b-Hydroxylase Deficiency, the enzyme below 21-hydroxylase, characteristics ?   * low plasma renin activity & elevation of serum 11-Deoxycortisol and 11-deoxycorticosterone.......* see salt retention, hypertension & hypokalemic alkalosis    
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Presents similar to 11-b-Hydroxylase, 17-a-Hydroxylase deficiency, how is it different ?   * androgens are low, so no virilization in girls & genitalia is ambiguous in boys ---- blocks androgen production, so boys cant develop and look like girls, and blocks glucocorticoid production.....no virilization in girls    
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This is a very rare disorder that results in accumulation of DHEA ?   * 3-b-hydroxysteroid dehydrogenase deficiency    
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What 3-b-hydroxysteroid dehydrogenase deficiency causes ?   * the DHEA is converted to testosterone in peripheral tissues -----> virilization of female fetus and leads to ambiguous genitalia in the newborn (girls look like boys)    
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3 areas of adrenal gland, and their products ?   * Zona glomerulosa, which produces predominately mineralocorticoid ----*Zona fasciculata, which produces predominately glucocorticoid ----*Zona reticularis, which produces predominately androgens    
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What to look for in kids to help Dx ?   * Increased linear growth with advanced bone age and eventual short stature ----*Pseudohermaphorditism in girls due to androgen virilizing effect ----*Isosexual precocity in boys with small infantile testes.    
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If babies have Diarrhea & Vomiting, hypoglycemia or high BP ?   * suspect a CAH issue    
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Non salt losing CAH presents ?   * late in childhood with precocious pubic hair and/or clitoromegaly, often accompanied by accelerated growth and advanced bone age.    
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GIRLS WITH CAH ?   *Have ambiguous genitalia at birth----* In less severe forms, genitalia is normal at birth. Precocious pubic hair & clitoromegaly and excess facial or body hair appear later in childhood, often accompanied by tall stature.    
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Boys with CAH ?   *Are unrecognized at birth because their genitalia are normal.---- *They are not diagnosed until later, often with a salt wasting crisis resulting in dehydration, hypotension, hyponatremia and hyperkalemia or later in childhood with early pubic hair & pha   * phallic enlargement accompanied by accelerated linear growth and advancement of skeletal maturation.  
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11-b-hydroxylase deficiency labs ?   * high serum 11-deoxycorticosterone and 11-deoxycortisol concentrations    
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associated with suppressed plasma renin activity and hypokalemia?   * 11-b-hydroxylase deficiency and 17-a-hydroxylase deficiency    
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Some Imaging studies ?   * ultrasound, urogenitogram, CT, Bone Age    
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Tmt goals ?   *maintain growth, normalize hormone levels with as little dose of glucocorticoids as possible    
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Glucocorticoid dosing ?   * 3 x small does a day, and double when a crisis occurs (sick, etc.)    
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Mineralocorticoid therapy ?   * used in patients that have salt wasting CAH to replace aldosterone    
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Children with CAH are at high risk for ?   * developing mesodermal tumors---- e.g. osteogenic sarcoma, pulmonary liposarcoma, uterine leiomyomata and brain tumors    
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21-hydroxylase deficiency lab findings ?   * very high serum 17-hydroxyprogesterone is characteristic together with very high urinary pregnanetriol    
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