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Current location: China paper Ce Medi Clin body symptoms of androgen congenital adrenal hyperplasia
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Example 4, the patient, female, 10 years old. Example 3 sister. Appearance at birth of women patients. 6 years ago, his parents found aloof Yinfa Yu malformation, large clitoris, and gradually grew into a small penis-like, more and more obvious in recent years, and found that children with laryngeal development, pronunciation sounds rough, and she begins to grow pubic hair. CT showed bilateral adrenal hyperplasia, B ultrasound showed uterine hypoplasia. Search chromosomes: 46XX. F 0.14 mol / L, ACTH 73.8ng / L, T 10.31nmol / L, P 8.19nmol / L, lying ALD 267.7 pg / ml, PRA 0.02ng / (mlh). K 1.5mmol / L, Na 143.3 mmol / L. 7 months after treatment: T 0.6nmol / L, F 0.32 mol / L, ACTH 27.8ng / L, K 4.6mmol / L. Diagnosis of CYP11B deficiency.
2 Discussion
2.1 with hyperandrogenism symptoms CAH CYP21 and CYP11B only cortisol and aldosterone synthesis defect reduction, and sex hormone synthesis accessible, on the contrary increased yield, it can cause male pseudo-precocious puberty clinical women masculine. Defects in these two enzymes, so that the enzyme precursor accumulation. The classic of them relatively easy identification. Mild CYP21 deficiency, from mild cortisol deficiency and androgen excess generation caused by normal secretion of aldosterone. More severe clinical manifestations of extreme and moderate


severe form of classical light, no loss of performance of salt. Women with normal external genitalia at birth, often after the birth of childhood, adulthood, due to mild symptoms and signs of androgen excess was diagnosed. Sexual hair early childhood can be present, acne, mild growth acceleration, mild hypertrophy of the clitoris; to adolescence or adulthood can have hirsutism, cystic acne, menstrual disorders and infertility, a small number of patients may have no androgen more symptoms. Male patients may be asymptomatic or mild symptoms may appear early puberty, sexual hair back now, acne, growth slightly accelerated, but the adult short stature. Secretion of androgen excess can cause suppression of pituitary gonadotropin-releasing spermatogenic Erzhi and fertility decline. Nonclassical CYP11B deficiency of blood pressure is often normal or only mildly elevated, while other clinical manifestations and non-classical CYP21 deficiency similar. 3 -HSD deficiency in female patients, working out a lot of DHEA into active androgens stronger, and produce mild to moderate masculine, and non-classical CYP21 deficiency similar to the nonclassical 3 -HSD defect Patients with obvious abnormalities at birth, the majority of patients due to lack of aldosterone secretion beneath salt performance.
2.2 RAS system and the relationship between the above 3 CYP11B deficiency CAH due the increase of DOC precursors can lead to sodium retention and increased blood volume, PRA was suppressed in the normal range to reduce or ALD; and the reasons for the DOC, although can be no blood pressure, but showed severe hypokalemia. CYP21 deficiency, especially in atypical mild CYP21 deficiency, from mild cortisol deficiency and androgen excess generation caused by aldosterone synthesis not affected, coupled with good kidney function preserving sodium, so no loss of performance of salt, However, there may be increased PRA; CAH did not receive timely treatment, the long-term may result in increased PRA, such as focal segmental glomerular sclerosis and other damage. The 3 -HSD deficiency patients because of inadequate secretion of ADH, and PRA increased. Meanwhile, the renin system testing is to assess the patient's body sodium balance and regulation of mineralocorticoid dose of a sensitive indicator [1].
2.3 CAH attention points in the treatment of prednisone or dexamethasone, a glucocorticoid synthesis of analogues, the role of these agents stronger effect lasted longer, and more on the growth inhibition, it is active in the growth children should not be applied.
2.4 clinical progress to CYP21 deficiency the most common, accounting for more than 90%, CYP11 deficiency, followed by about 5% to 8%; then followed by 3 -HSD deficiency [2]. Early diagnosis and timely treatment to improve the quality of life in these patients is essential. Therefore, any family history or the mother has given birth to such children, and can measure 14 to 20 weeks of pregnancy the amniotic fluid of 17 - hydroxyprogesterone levels in amniotic fluid cells or tissues carrying the gene compatibility antigen (HLA) check, can be screened out of CYP21 deficiency and make a prenatal diagnosis, newborn drops of paper with the determination of 17 - hydroxyprogesterone can be diagnosed [3].
Reference
1 Jun Ye. Renin system detection in congenital adrenal hyperplasia in the diagnosis and treatment - 22 cases. Endocrinology and Metabolism, 1996, (5) :67-7 2 LUO Xiang Hangzhou. Endocrinology. Beijing: People Health Press ,2004,920-93 3 Wang Jiana .21 - hydroxylase deficiency in 16 patients. West China Medical Journal, 2005, (2): 361. Reposted elsewhere in the paper for free
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