Adrenogenital syndrome (AGS; adrenogenital = affecting the adrenal gland and gonads) (synonyms: adrenogenital salt wasting syndrome; adrenogenital syndrome; adrenogenital disorder; Debré-Fibiger syndrome; genitoadrenal syndrome; genitosuprarenal syndrome; English : Congenital adrenal hyperplasia; (CAH); ICD-10-GM E25. 9: Adrenogenital disorder, unspecified) comprises a group of congenital metabolic disorders in which the synthesis (production) of the steroid hormones cortisol (glucocorticoid; stress hormone) and aldosterone (mineral corticoid; serves to maintain salt balance) in the adrenal cortex is disturbed.The cause is an enzyme defect. The enzyme most frequently affected is 21-hydroxylase. This enzyme is involved in the biosynthesis of the steroid hormones cortisol and aldosterone. To compensate for the deficiency of cortisol that occurs as a result, overstimulation of the adrenal cortex occurs. Androgens (male sex hormones; e.g., DHEA, testosterone) are also produced in the adrenal cortex. Due to the increased activity of the adrenal cortex, hyperandrogenemia (increase in male sex hormones in the blood) develops, leading to virilization (masculinization) in girls and premature sexual development (pseudopubertas praecox) in boys. Deficiency of aldosterone causes disturbances in salt balance with fluid loss (“salt wasting syndrome”). Aldosterone is a mineralocorticoid. It represents an important link in the renin-angiotensin-aldosterone system (RAAS), which helps regulate blood pressure and salt balance.In summary, adrenogenital syndrome can be described as a combined congenital disorder of adrenal steroid biosynthesis and sex differentiation. Adrenogenital syndrome is inherited in an autosomal recessive manner (congenital adrenogenital syndrome). The following types of adrenogenital syndrome are distinguished:
- Classic adrenogenital syndrome-symptoms appear in newborns.
- Without salt wasting (“salt-wasting”-AGS).
- With salt loss (“simple virilizer”-AGS)
- Nonclassical adrenogenital syndrome.
- “late-onset” AGS – symptoms do not appear until puberty or adulthood.
- “cryptec”-AGS (minimal form of AGS) – no symptoms, but characteristic hormone profile.
The androgenital syndrome may also be acquired. The cause may be an androgen-forming adrenocortical tumor or a gonadal tumor (gonadal tumor). The prevalence (disease incidence) for classic adrenogenital syndrome is 1 per 5,000-15,000 population and for non-classic adrenogenital syndrome is estimated to be 1 per 1,000 population. Course and prognosis: The course of adrenogenital syndrome (AGS) depends on which enzyme is affected by the defect and to what extent residual activity of it is still present (see below Symptoms – Complaints). In any case, AGS patients receive an emergency card.Patients with classical AGS receive superphysiological glucocorticoid administration for therapy of adrenal androgen overproduction. Furthermore, mineralocorticoid substitution is given (see therapy below). In men, suppressive therapy also prevents the growth of testicular adrenal residual tumors (TART). Note: In boys, the treating urologist must be informed about the disease to avoid unnecessary testicular surgery.In the presence of non-classical AGS, therapy is given only if relevant symptoms are present. In childhood, low-dose cortisol therapy is sufficient. In adulthood, anticonceptives are used. In adult therapy, the focus is on avoiding Addisonian crises (vigilance disorders, dehydration (lack of fluids), fever, hypoglycemia (low blood sugar)), which can take on a life-threatening form, preservation of fertility (fertility), and satisfactory sexual function. The prognosis is very good with good adjustment of hormone substitution. Symptoms disappear, patients can lead a normal life and have a normal life expectancy.
