Adrenogenital syndrome

Adrenocortical insufficiency Organ transplants Liver disease Adrenogenital syndrome Nephrotic syndrome Acute spinal cord injury Hyp ere alemia Hematologic disorders Myasthenia gravis Neoplastic disease... 

Congenital defects in the biosynthesis of steroid hormones can lead to severe developmental disturbances, in the adrenogenital syndrome (AGS), which is relatively common, there is usually a defect in 21-hydroxylase, which is needed for synthesis of cortisol and aldosterone from progesterone. Reduced synthesis of this hormone leads to increased formation of testosterone, resulting in masculin-ization of female fetuses. With early diagnosis, this condition can be avoided by providing the mother with hormone treatment before birth. 

Adrenogenital syndrome A single 40 mg injection IM every 2 weeks. 

Extreme clinical examples of androgen excess include central precocious puberty, the adrenogenital syndromes, and androgen-secreting adrenal, ovarian, or testicular tumors. Less severe problems include idiopathic hirsutism, premenstrual syndrome, and severe cystic acne. 

Bongiovanni AM (1962) The adrenogenital syndrome with deficiency of 3/ -hydroxysteroid dehydrogenase. J Clin Invest 41 2086-2092... 

Hormone suppression therapy can be used, for example, to inhibit the adrenogenital syndrome (3). Higher doses are used. The treatment of the adrenogenital syndrome is only partly substitutive and has to be adapted to the individual case, but doses are needed at which various hormonal effects of the glucocorticoids and mineralocorticoids are likely to become troublesome. 

Stockli A, Keller M. Kongenitales adrenogenitales Syndrom und Schwangerschaft. [Congenital adrenogenital syndrome and pregnancy.] Schweiz Med Wochenschr 1969 99(4) 126-8. 

Steroid 21-hydroxylase deficiency is the most commonly encountered form of the adrenogenital syndrome and has been widely studied using a... 

In adrenogenital syndrome and adrenal virilism, an attempt may be made to suppress excess adrenal androgen secretion by inhibiting pituitary corticotropin production by means of prednisolone or dexamethasone. Suppression of androgen production is effective if there is adrenal hyperplasia, but not if an adrenal tumour is present. Hairiness, which women especially dislike in themselves, is often unaffected even though good suppression is achieved, and menstruation recommences. 

Figure 51-6 Biosynthesis of corticosteroids. Roman numerals I (side-chain cleavage enzyme), II (3-p-ol dehydrogenase and/or A" isomerase), III (21-hydroxylase), and IV (lip-hydroxyiase) indicate sites of major blocks that cause adrenogenital syndromes. (Copyright 1959 CIBA Pharmaceutical Co. Division of CIBA-GEIGY Corp. Reproduced, with permission, from The CiBA Collection of Medical Illustrations by Netter FH.AII rights reserved.)...

Figure 51-15 Formation of steroids in patients with adrenogenital syndrome caused by 21 -hydroxylase deficiency. Bold lettering indicates steroids that are found elevated in the circulation. ACTH, Adrenocorticotropic hormone SpSDH 3p-hydroxysteroid dehydrogenase.

Wudy SA, Homoki J, Wachter UA, Teller WM. Diagnosis of the adrenogenital syndrome caused by llp-hydroxylase deficiency using gas chromatographic-mass spectrometric analysis of the urinary steroid profile. Dtsch Med Wochenschr 1997 122 3-11. 

Jeffcoate TN, Fliegner JR, Russell SH, Davis fC, Wade AiP. Diagnosis of the adrenogenital syndrome before birth. Lancet 1965 2 7412) 553-5. 

Abnormalities of steroidogenesis known by the general term adrenogenital syndrome do not cause changes in serum alkaline phosphatase (B34, B48), nor are there any consistent changes associated with isolated hyper-or hypoaldosteronism (M8, P33). 

Even quantitative assessment of pregnanetriol by visual comparison with standards would be adequate using carefully coded samples, and preferably duplicates. It is agreed from objective evaluations in a wide variety of fields that this method has a C.V. of 15 to 20% (B27). In the presence of 5- to 100-fold elevations of this steroid in the adrenogenital syndrome, the visual method would meet the usual requirements for a clinically valid discriminant (W3). 

Fig. 3. Part of a 20 X 20 cm thin-layer chromatography plate for the assay in urine of A, androsterone B, DHA C, etiocholanolone D, 11-oxo-androsterone E, 11-oxo-etiooholanolone F, llj8-OH-androsterone G, llj8-OH-etiocholanolone. Standard compounds have been run in positions 1, S, 6, and 8. Duplicate extracts from normal adult urines have been run in positions 2, 4, and 5 from a normal day-old infant in position 7 and from an infant with the adrenogenital syndrome in position...

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