Ambiguous Genitalia Word Scramble
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Question | Answer | |
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
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