Adrenal crisis or salt-losing signs most often associated
with genital anomalies. Adaptation of steroid therapy, fluid management, and
blood pressure monitoring are imperative.
Salt-Losing Syndrome; Fibiger-Debré Von Gierke
Syndrome; De Crecchio Syndrome; Fibiger-Debré Syndrome; Gallais
Syndrome; Pirie Syndrome; Adrenal Virilizing Syndrome; Female
Pseudohermaphroditism; Macrogenitosomia Praecox; Pseudosexual Precocity;
Suprarenal Genital Syndrome; Suprarenal
Pseudohermaphroditism-Virilism-Hirsutism Syndrome; Virilizing Adrenocortical
Congenital Adrenal Hyperplasia has an incidence about
1:5000 live births; Salt-Losing Syndrome incidence has been evaluated at
1:26,292 live births.
The gene is located on 6p21.3. The disease is closely
linked to HLA and results from deficiency in one or another of the enzymes
involved in the cortisol biosynthesis. In approximately 95% of cases, 21-hydroxylation
is impaired in the zona fasciculata of the adrenal cortex which prevent the conversion
11-deoxycortisol, resulting in overproduction of
adrenocorticotropic hormone (ACTH) and cortisol precursors. Three principal
biochemically distinct types have been described: virilizing adrenal hyperplasia, mixed
adrenal hyperplasia, and nonvirilizing adrenal hyperplasia. A fourth one, often defined as
acquired, is sometime considered. Of these children, 75% have
Evocated shortly after birth in cases of salt-losing
signs (vomiting, dehydration, electrolyte changes, cardiac arrhythmias, and
even adrenal crisis) or virilization signs. Biological signs include
elevated urinary 17-ketosteroids, normal or decreased urinary
17-hydroxycorticosteroids, elevated 17-OH progesterone in blood, elevated
serum dehydroepiandrosterone (DHEA) sulfate, and abnormal blood and urinary
Salt-losing signs can be associated with hypertension, recurrent fever, and hypoglycemia.
Adrenal crisis can occur spontaneously in patients affected with severe adrenal
hyperplasia. It includes various signs (headache, weakness, vomiting, low blood pressure,
dehydration, fever, coma, tachycardia, joint and abdominal pain, weight loss, tachypnea)
and can lead to death. Clinical features can also include genital signs (hypospadias,
masculinizing female sexual characteristics, testicular tumors in adults, virilization,
gynecomastia in adults). Growth is accelerated but adult stature is often short.
Evaluate salt-loss severity
(clinical, history, weight, blood and urinary electrolytes, urea,
creatinine) and cardiac implications (clinical, iterative cardiac blood
measurement, ECG, echocardiography). Laboratory investigations should include
glycemia, cortisol, and blood gas analysis.
Electrolyte balance should be obtained
before surgery. Blood pressure should be closely supervised during the perioperative
period. An indwelling arterial catheter is recommended for major procedures or in case of
emergency. Strict asepsis is necessary in patients with steroid therapy.
Glycemia and electrolytes should be regularly measured during the perioperative
Steroid therapy must be adapted to the importance of the surgical stress and consist in
the administration of hydrocortisone 2 mg/kg. Prophylactic antibiotics are indicated in
immunodeficient patients. Hypnomidate is contraindicated because of its effect on the
adrenal gland. Succinylcholine should be avoided in patients presenting electrolytes
instability (risk of hyperkalemia). Adrenal crisis can require vasoactive drugs (to
support low blood pressure), supplementary hydrocortisone, and appropriate fluid regiment
with extra sodium.
Wilkins Disease: Individuals affected with this medical condition ...