Adrenogenital syndrome, congenital E25.9

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Adrenogenital syndrome; AGS

Definition
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Group of autosomal-recessive inherited metabolic diseases characterized by an overproduction of androgenic steroid hormones in the adrenal cortex (NNR). The formation of aldosterone and cortisol is disturbed, as is the increased formation of androgens with resulting virilization in the female sex.

Classification
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AGS is divided into 5 types depending on the enzyme involved:
Type Enzyme concerned Frequencies (birth)
Type 1 20,22-Desmolase
Type 2 3-beta steroid dehydrogenase
Type 3 21-hydroxylase 1:5000 - 1:15.000
Type 4 11-beta-hydroxylase 1:100.000
Type 5 17-alpha-hydroxylase rarely

Occurrence/Epidemiology
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Panethnic in appearance.

Etiopathogenesis
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The most common 21-hydroxylase deficiency (conversion of progesterone to deoxycorticosterone or from 17-hydroxyprogesterone to 11-deoxycortisol). The reduced cortisol blood level leads to compensatory ACTH overproduction, associated adrenal cortex hyperplasia and an increase in hormone metabolites in front of the enzyme block (dehydroepiandrosterone, androstenedione). In the case of AGS with salt loss, both cortisol and aldosterone production is reduced.

Manifestation
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From birth.

Clinical features
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Overall very variable clinical expression depending on the residual activity of the enzyme pseudohermaphroditism femininus or macrogenitosomy in boys. There is accelerated body growth and bone maturation with developmental arrest of the gonads. Depending on the severity of the enzyme defect, a distinction is made between AGS with and without salt loss (see Table 1). In 17-beta-hydroxylase defect, symptoms of androgen excess with hypertension due to the accumulation of corticosteroids with mineralocorticoid activity dominate the picture. In the case of 3-beta-hydroxysteroid dehydrogenase deficiency, signs of androgen deficiency develop, see also pseudohermaphroditism masculinus.

Diagnosis
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Adrenal androgens and their metabolites in serum and urine (17-ketosteroids in 24-h urine), ACTH in serum, hyponatremia, hypokalemia

Differential diagnosis
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Therapy
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Therapy by endocrinologists, if necessary by permanent substitution with hydrocortisone (20 mg/m2KO/day p.o.), divided into 3 ED. During physical strain and stress (surgery, infections) double or triple the dose of glucocorticoids. In girls, early surgical intervention for reconstruction of the genitals may be necessary. In case of aldosterone deficiency, additional mineralocorticoids may be given.

Tables
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AGS without salt loss/ simple AGS

Girls

Differently pronounced virilization of the external genitals. Normal development of ovaries, tubes, uterus, vagina.

Boys

Penile hypertrophy, pseudopubertas praecox.

Both sexes

Prepubertal large stature, in adulthood short stature due to premature closure of the epiphyseal joints. Possible signs of hypocortisolism (Addison's disease).

AGS with loss of salt

Additionally hyponatremia and hyperkalemia, metabolic acidosis (arterial hypotension, vomiting, weight loss in infancy).

Literature
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  1. Crouch NS et al (2004) Genital sensation after feminizing genitoplasty for congenital adrenal hyperplasia: a pilot study. BJU Int 93: 135-138
  2. Degitz K et al (2003) Congenital adrenal hyperplasia and acne in male patients. Br J Dermatol 148: 1263-1266
  3. MacLaughlin DT et al (2004) Sex determination and differentiation. N Engl J Med 350: 367-378
  4. Speiser PW et al (2003) Congenital adrenal hyperplasia. N Engl J Med 349: 776-788

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020