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congenital adrenal hyperplasia DR BADI ALENAZI 23/05/2017 objectives Pathophysiology of pituitary adrenal axis Major enzyme def in CAH 21 OH CAH symptom and sign 21 OH CAH type and presentation 21 OH CAH treatment 23/05/2017 23/05/2017 أهمية التفريق بين الجنسين في االسالم الطهارة – اآلذان -الصالة – األمامة – الجماعة اإلعتكاف – الحج – التلبية – اإلحرام – العورة – اللباس – الجهاد – الخيرية – البلوغ -النسب –– الميراث – الوصية – الوقف – القصاص – الشهادة – الوالية – الختان – الزواج – الطالق – الرضاعة – الغسل – التكفين – الصالة عليه – الدفن Congenital adrenal hyperplasia 23/05/2017 Introduction: The term congenital adrenal hyperplasia include several autosomal recessive disorders, all of which involve a deficiency or relative defect in cortisol , aldosterone synthesis, increase or decrease level of androgen.. 23/05/2017 The adrenal consists of the outer cortex and the inner medulla Aldosterone Epinephrine Cortisol Adrenal androgens 23/05/2017 CRH Pituitary ACTH Cortisol Adrenal 23/05/2017 23/05/2017 Pathophysiology: 23/05/2017 cont.. Decreased cortisol biosynthesis Increased adrenal androgen biosynthesis Mineralocorticoid biosynthesis 23/05/2017 Anorexia Poor Weight gain Fatigue Vomiting Weakness Hypoglycemia Virilization Dehydration Hyponatremia Hyperkalemia the major Enzymes involved in CAH: 20-22 desmolase 21-Hydroxylase 11-b-Hydroxylase 17-a-Hydroxylase 3-b-Hydroxysteroid dehydrogenese. 23/05/2017 Presentation Salt loosing crises due to aldosterone deficiency. Ambigous genitalia in male patient. 23/05/2017 Labs : Low cortison, aldosteron and androgen levels. Decrease or absent response to ACTH stimulation test. Increase plasma renin level Massive adrenal enlargment by imaging study. 23/05/2017 CAH due to 21 hydroxylase deficiency 23/05/2017 CAH due to 21 hydroxylase deficiency Causes more than 90% of CAH. Result from mutation in CYT P21. It is charactericed by decrease production of cortison and aldosteron and increase progestron and 17 oh progestrone.. Less severely affected pt can synthesize aldosterone but have elevated levels of androgens: “Simple virilizing disease”. 23/05/2017 Phenotypic Spectrum of the Congenital Adrenal Hyperplasias Salt-losing Simple virilizing Non-classical SPECTRUM Newborn Ambiguous genitalia Salt loss Failure to thrive 23/05/2017 Young child Premature pubarche Advanced bone age Adolescent/adult Female Hirsutism Irregular menses Infertility cont.. 1) ALDOSTERONE AND CORTISOL DEFICIENCY: Include progressive weight loss, anorexia, dehydration, weakness, hypotension, hypoglycemia, hypoNa, and hyperkalemia. These problems typically first develop in affected infants at 2wk of age. 23/05/2017 Virilized 46,XX infants with classical salt-losing CAH 23/05/2017 Cont.. 3) POSTNATAL ANDROGEN EXCESS: Untreated children of both sexes develop additional signs of androgen excess after birth. Rapid somatic growth and accelerated skeletal maturation with premature closure of epiphysis. Pubic and axillary hair, acne and deep voice may develop. In girls, breast development and menstruation do not occur unless the excessive production of androgens is suppressed by Tx. 23/05/2017 Simple Virilizing CAH: Premature pubic hair/axillary hair Body odor Clitormegaly/phallic enlargement Acne Advanced bone age 23/05/2017 Late-Onset or Non-Classical CAH Adolescent or young adult females Hirsutism Amenorrhea +/- Clitoromegaly Acne Infertility 23/05/2017 LABORATORY FINDINGS Pt with salt-losing disease have hyponatremia, hyperkalemia, acidosis and often hypoglycemia usually 1-2 wk or longer after birth. 17-OH progesterone is high. Measurement is best 30 min after an IV bolus of cosyntropin (ACTH 1-24). Cortisol level is low. Androstenedione and testosterone are elevated in affected females. ACTH is high . High Renine levels with low levels of aldosterone. 23/05/2017 TREATMENT 23/05/2017 Treatment: 1) GLUCOCORTICOID REPLACEMENT: – Hydrocortisone – Prednisone – Dexamethasone 8-18 mg/m2/day 1.5-4 mg/m2/day 0.3-0.9 mg/m2/day - Double or triple doses are indicated during periods of stress. - Linear growth, weight gain, pubertal development and skeletal maturation must be followed closely. 23/05/2017 Cont.. 2) MINERALOCORTICOID REPLACEMENT: - Pt with salt wasting disease require tx with fludrocortisone. - Some pt require sodium supplementation in addition to the mineralocorticoid. - Serum electrolytes should be measured frequently. 23/05/2017 Cont.. 3) SURGICAL MANAGEMENT OF AG. Virilized females usually undergo surgery between 4-12 mo of age. Sex assignment of infants with intersex conditions is usually based on expected sexual functioning and fertility in adulthood with surgical correction of the external genitals to confirm with the sex assignment. 23/05/2017 Ob/Gyne Pediatric Endocrinologist Multi-disciplinary Team Psychologist/ Behavioral Science Family Pediatrician Child Pediatric Urologist/Surgeon 23/05/2017 radiologist Geneticist Summary Ambigous genitalia Male female 17 hydroxlase deficiency 21 hydrxylase deficiency 3-beta-H deficiency 11-b-H Deficiency 20-22 desmolase deficiency 23/05/2017