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ID/CC-A 16-year-old girl is referred to an endocrinologist owing to lack of menses (AMENORRHEA) and absence of pubic hair, axillary hair, and breast development (LACK OF SECONDARY SEXUAL CHARACTERISTICS).
HPI-She also complains of frequent headaches and ringing in her ears (due to hypertension).
PE-VS: hypertension (BP 160/105). PE: funduscopic exam normal; no lymphadenopathy; no hepatosplenomegaly; absence of breast tissue; no abdominal or pelvic masses palpable; no axillary or pubic hair; vulvar labia normal.
Labs-Lytes: hypokalemia; hypernatremia. ABGs: metabolic alkalosis (due to mineralocorticoid action of 11-deoxycorticosterone and corticosterone). Suppressed renin; increase in urinary gonadotropins (due to attempt to compensate for lack of sex hormones); diminished 17-ketosteroids (product of sex hormones); increased progesterone, pregnenolone, 11-deoxycorticosterone, and corticosterone.
Treatment-Glucocorticoids. Sex hormones.
Discussion-A decrease in 17-á-hydroxylase produces an increase in 11-deoxycorticosterone and corticosterone (due to shifting metabolism of sex hormones to aldosterone pathway); renin is suppressed (due to aldosterone negative feedback). Females fail to develop secondary sexual characteristics; males develop ambiguous external genitalia (MALE PSEUDOHERMAPHRODITISM).
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Book Description Wiley-Blackwell. PAPERBACK. Book Condition: New. 1890061344 Ships promptly. Bookseller Inventory # GWU3260GAGG060817H0190
Book Description Wiley-Blackwell, 1999. Paperback. Book Condition: New. Never used!. Bookseller Inventory # P111890061344
Book Description Wiley-Blackwell. PAPERBACK. Book Condition: New. 1890061344 New Condition. Bookseller Inventory # NEW7.1729106