Save the life of a rare infant with severe primary adrenal insufficiency

Recently, City Children’s Hospital received a case of CB newborn. NLTV 29 days old, female, living in Tien Giang. Taking the medical history, the baby was born normally at full term, weighing 2.5 kg at birth, the family saw that the baby’s skin darkens gradually, 2 days before admission, the child sucked less, vomited milk 5-6 times, and had weak limb movements. , tired breathing, cold hands and feet, should be admitted to the local hospital for first aid and transferred to the City Children’s Hospital. On admission, the child was lethargic, poorly exposed, purple lips/oxygen, cool extremities, CRT 3-4 seconds, SpO2 70-80%, pulse not caught, heart irregular 70-90 beats/min, Shortness of breath, tender abdomen, liver 3cm below right lower quadrant, flat fontanelle, yellow eyes, dark skin, normal urogenital organs. Preliminary diagnosis of septic shock, neonatal sepsis – congenital adrenal hyperplasia. Tests showed that the child had an infection, severe metabolic acidosis pH 7.19, HCO3: 14.4, BE -12.6, hyponatremia 116 mmol/L, hyperkalemia 6.2 mmol/L, hypocalcemia 0.85 mmol/L, hypoglycemia 2.1 mmol/L, liver enzymes slightly increased, chest X-ray: pneumonia, was initially managed intubation, mechanical ventilation, fluid resuscitation, anti-shock, infusion of vasopressors (dopamine, adrenaline), bicarbonate, calcium, antibiotics, sedation. Children who have some more hormone tests have found that they have decreased cortisol, aldosterone, increased ACTH, and blood renin, while 17 OH Progesterone is normal and CT scan of bilateral adrenal hypoplasia should be diagnosed. Endocrine dysfunction is primary adrenal insufficiency due to hypoplasia of the adrenal gland, leading to a decrease in the production of the hormones cortisone (which holds sodium and water), aldosterone (which has the effect of reabsorbing sodium and excreting potassium) and reducing sodium. , hyperkalemia, decreased renal perfusion leading to stimulation of the paraglomerular apparatus to increase renin secretion, the pituitary gland to increase ACTH secretion to stimulate the adrenal gland to work but ineffectively leading to increased ACTH and blood renin. Children are treated with hydrocortisone (complementary equivalent to cortisol), fludrocortisone (equivalent to aldosterone), electrolyte adjustment, acid-base balance, nutrition. Results after 3 weeks of treatment, the condition improved, weaned off the ventilator, hemodynamic stability, electrolytes returned to normal, was discharged for follow-up endocrinology examination by appointment. This is a rare case of neonatal endocrine disease that must be distinguished from the more common neonatal endocrine disorder, which is congenital adrenal hyperplasia caused by one or more enzymes (especially 21- hydroxylase) deficiency or dysfunction results in decreased production of cortisol and the precursor form of cortisol, 17-OH-Progesterone, becomes stagnant in the blood – elevated in the blood. 17-OH-Progesterone is an endogenous steroid hormone secreted by the adrenal cortex in the chain that converts cholesterol to cortisol, aldosterone, and testosterone. The adrenal glands use the excess 17-OH-Progesterone to produce androgen. Excess androgens can cause virilization, the development of male biological characteristics in both men and women.

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CB infants. NLTV 29 days old, female with primary adrenal insufficiency causes severe darkening of the skin because ACTH stimulates the skin epithelial cells to increase melanin secretion, explaining the reason why parents with “white” skin give birth to “black” children. .

Doctor 2 Nguyen Minh Tien
City Children’s Hospital

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