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Ambiguous Genitalia

Congenital Adrenal Hyperplasia

Inheritance pattern of congenital adrenal hyperplasia ? * auto recessive - see an adrenal enzyme deficiency
The 4 enzyme deficiencies to be discussed ? *21-Hydroxylase- -11-b-Hydroxylase- -17-a-Hydroxylase- -3-b-H-steroid hydrogenase
Phenotype of the baby is determined by ? *degree or type of gene deletion or mutation ...some have full inactivity, while some are partially lost
What we see as a result with CAH when babies are born ? * genital ambiguity
** Know the steroidogenesis chart ** .
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
The primary endogenous mineralocorticoid is ? And its actions ? * Aldosterone - reabsorption of Na and H20, as well as K secretion -->increase bd volume/pressure
Most common type of CAH and we see mineralcorticoid and glucocorticoid deficiency ? * 21-Hydroxylase Def.
Heterozygous carriers can be detected by ? * ACTH stimulation test
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
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
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
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
Male babies with non salt-losing non-classic type ? * asymptomatic till late childhood when they may show signs of sexual precocity
Neonatal Screening test to test for 21-hydroxylase def.? * 17-OH-Progesterone
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
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
This is a very rare disorder that results in accumulation of DHEA ? * 3-b-hydroxysteroid dehydrogenase deficiency
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)
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
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.
If babies have Diarrhea & Vomiting, hypoglycemia or high BP ? * suspect a CAH issue
Non salt losing CAH presents ? * late in childhood with precocious pubic hair and/or clitoromegaly, often accompanied by accelerated growth and advanced bone age.
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.
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.
11-b-hydroxylase deficiency labs ? * high serum 11-deoxycorticosterone and 11-deoxycortisol concentrations
associated with suppressed plasma renin activity and hypokalemia? * 11-b-hydroxylase deficiency and 17-a-hydroxylase deficiency
Some Imaging studies ? * ultrasound, urogenitogram, CT, Bone Age
Tmt goals ? *maintain growth, normalize hormone levels with as little dose of glucocorticoids as possible
Glucocorticoid dosing ? * 3 x small does a day, and double when a crisis occurs (sick, etc.)
Mineralocorticoid therapy ? * used in patients that have salt wasting CAH to replace aldosterone
Children with CAH are at high risk for ? * developing mesodermal tumors---- e.g. osteogenic sarcoma, pulmonary liposarcoma, uterine leiomyomata and brain tumors
21-hydroxylase deficiency lab findings ? * very high serum 17-hydroxyprogesterone is characteristic together with very high urinary pregnanetriol
Created by: thamrick800