CONGENITAL ADRNAL HYPERPLASIA NNEDU CHARLES OBIDI MEDICAL FACULTY 5 TH YEAR

Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis

Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults.

The symptoms of CAH vary depending upon the form of CAH and the sex of the patient. Symptoms are grouped depending on the deficient hormone of the adrenal gland which include:

Due to low mineralocorticoids: vomiting due to salt-wasting leading to dehydration and death

Due to inadequate androgen: functional and average sized penis in cases involving extreme virilization (but no sperm),ambiguous genitalia, in some females, such that it can be initially difficult to determine

Cortisol is an adrenal steroid hormone that is required for normal endocrine function. Production begins in the second month of fetal life. Poor cortisol production is a hallmark of most forms of CAH.

Inefficient cortisol production results in rising levels of ACTH, which in turn induces overgrowth (hyperplasia) and overactivity of the steroid-producing cells of the adrenal cortex. The defects causing adrenal hyperplasia are congenital (i.e., present at birth).

Cortisol deficiency in CAH is usually partial, and not the most serious problem for an affected person. Synthesis of cortisol shares steps with synthesis of mineralocorticoids such as aldosterone, androgens such as testosterone, and estrogens such as estradiol

The resulting excessive or deficient production of these three classes of hormones produce the most important problems for people with CAH. Specific enzyme deficiencies are associated with characteristic patterns of over- or underproduction of mineralocorticoids or sex steroid

In all its forms, congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for about 95% of diagnosed cases of CAH. Unless another specific enzyme is mentioned, "CAH" in nearly all contexts refers to 21-hydroxylase deficiency.

The terms "salt-wasting CAH", and "simple virilizing CAH" usually refer to subtypes of this condition.) CAH due to deficiencies of enzymes other than 21- hydroxylase present many of the same management challenges as 21- hydroxylase deficiency, but some involve mineralocorticoid excess or sex steroid deficiency.

Milder degrees of inefficiency are usually associated with excessive or deficient sex hormone effects in childhood or adolescence, while the mildest form of CAH interferes with ovulation and fertility in adults...

Treatment of all forms of CAH may include any of: supplying enough glucocorticoid to reduce hyperplasia and overproduction of androgens of mineralocorticoids providing replacement mineralocorticoid and extra salt if the person is deficient

providing replacement testosterone or estrogen at puberty if the person is deficient additional treatments to optimize growth by delaying puberty or delaying bone maturation

One of our patient’s Complaints :anorexia,weight loss, weakness, vomiting Anamnesis morbi: child has been ill since birth with poor weight till 2weeks of age.At age of 2weeks,he refused eating accompanied by weakness,vomitting and was then hospitalized

Investigations ► Neurological status: muscle distonia with moderately decreased motor activity with decreased reflexes ► Ultrasound investigation:perivascu lar ischaemia of brain,kidneys were normal,uterus was also visualizes with normal status,hypertrophy of adrenal gland of 2 nd degree.

Organic acid analysis Increased ketoacid of 7.5(5.0 – 7.0) Increase fumaric acid,increased glutaric acid,increase d-malic acid with increased oxoproline and citric acid.

Biochemical Analysis ► Blood: total cholesterin 5.89( mmol),Triglyceride 1.61( mmol/l),17 OH hydroxy progesterone. ► Urine:ph 7.0, chloride 1(3-15g/l),

Liver analysis: parenchymatous enlargement by 3cm with toxic cholestatic infiltration in gallbladder which is also enlarged by 2cm. Kidney analysis:hyperplasia of kidney parenchyma,moderate pyeloectasia

heart: vessels are fine but with dilation of right heart.Brain :has evidence of hydrocephalus

DIAGNOSIS ► Initial diagnosis:inborn adrenal dysplasia&dysfunction(by an endocrinologist),bilateral cryptorchism with sterile disorders,adrenogenital syndrome and pylorospasm,intenstinal pareses of first type, hypospadia. ► Conclusive diagnosis : hypertrophy of adrenal gland and genital anomaly.

Treatment ► Ubixinon:1/4 of tablet everyday ► Cudesan: ► Folic acid:1mg/day for 20days ► Medobiolin:1tab/day for 1month ► Cardonate:1/2 of tab/day for a month ► Analysis control of blood electrolyte, urinalysis and examination follow up

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