Understanding Adrenogenital Syndrome in Children

🔑 Adrenogenital syndrome is an autosomal recessive disorder characterized by excess adrenal androgens, deficiency of cortisol and aldosterone, and increase in 17-ketosteroids and dihydroxy testosterone.

📚 Clinical features of adrenogenital syndrome include precocious puberty in male children, genital abnormalities in both male and female children, and amniotic fluid abnormalities.

🔬 Diagnosis of adrenogenital syndrome involves investigations such as 21-hydroxylase screening tests at birth and lab features showing increased levels of adrenal androgens.

🔑 Adrenogenital syndrome is mainly caused by 21-hydroxylase deficiency.

🌸 In female children, this deficiency leads to ambiguous genitalia, hirsutism, hypogonadism, and accelerated growth.

🧒 In male children, it causes precocious puberty, small testes, and short stature.

❗️ Adrenogenital syndrome is caused by a deficiency in 21-hydroxylase enzyme, leading to a backup of progesterone and 17 hydroxyprogesterone.

⚙️ This deficiency blocks the synthesis of aldosterone and cortisol, resulting in sodium loss, hyperkalemia, and increased androgen production.

🔬 The conversion of progesterone and 17 hydroxyprogesterone is hindered in both the aldosterone and cortisol synthesis pathways.

Adrenogenital syndrome is caused by a deficiency in 21-hydroxylase, leading to an increase in androgens.

The lack of cortisol in adrenogenital syndrome results in the overproduction of ACTH, leading to adrenal gland hypertrophy and hyperplasia.

Both 21-hydroxylase deficiency and 11-beta-hydroxylase deficiency cause an increase in androgens, but the latter also leads to increased deoxycorticosterone production and hypertension with hypokalemia.

🔑 Adrenogenital syndrome is caused by 21-hydroxylase deficiency, which leads to an increase in androgen levels.

⚡ In 11-beta hydroxylase deficiency, there is an increase in deoxycortisol, causing hypertension and hypokalemia.

🩺 The diagnosis of adrenogenital syndrome involves physical findings such as clitoral hypertrophy and labia fusion, as well as episodes of acute adrenal insufficiency.

🧪 Lab investigations for 21-hydroxylase deficiency show increased 17-ketosteroids, plasma DHEA, and hydroxyprogesterone, with a decrease in corticosteroids.

🔑 Adrenogenital syndrome is characterized by a deficiency in 21-hydroxylase, leading to decreased aldosterone and cortisol levels.

🚹 In males with adrenogenital syndrome, precocious puberty may occur, accompanied by low levels of gonadotrophins and luteinizing hormone, small testes, and oligoar.

🔬 The difference between 17-hydroxy steroids and 17-keto steroids lies in the presence of a hydroxyl group or a keto group on the carbon atom number 17.

📌 In male children with precocious puberty, there is an increase in androgens, low GnRH, low LH, small testes, and azoospermia.

📌 The highest quantity of adrenal hormones produced are cortisol (20 mg per day) and DHEA (15 to 20 mg per day).

📌 Adrenogenital syndrome is characterized by increased androgens production due to 21-hydroxylase deficiency.