ABSTRACT

CORRESPONDING AUTHOR:
Dr. Sunil B,
# 1272, 7th Cross, Chandra Layout,
Bangalore – 560040.
Email – docsunilb@gmail.com
      

ABSTRACT: Congenital adrenal hyperplasia is a hereditary disorder related to adrenal glands, with a deficient production of hormones (cortisol and aldosterone) and an androgen overproduction. We describe the clinical course of a male infant presenting with dehydration and salt losing crisis, diagnosed as Congenital Adrenal Hyperplasia. After initial crisis management, the child was continued on replacement therapy. In the absence of routine neonatal screening, a high index of suspicion is essential for the diagnosis of CAH in males.

KEY WORDS: male CAH, salt losing crisis, 17 Hydroxy-Progesterone (17- OH P)

INTRODUCTION: The Autosomal Recessively inherited Classic form of Congenital Adrenal Hyperplasia (CAH) due to 21-OH Hydroxylase deficiency is detected in approximately 1 in 16,000 births [1]. Due to genital ambiguity which is evident at birth, this disorder is suspected early in female newborns. However, in regions where newborns are not routinely screened, affected males are usually diagnosed after life threatening adrenal crisis or they die unsuspected [2]. We report a male infant with CAH, who was managed for salt losing crisis and was started on replacement therapy.

CASE REPORT: This twenty six day old infant was admitted to our hospital with failure to gain weight and recurrent vomiting. He was born to a 25 year old, Primigravida mother, with a regularly supervised and apparently uneventful antenatal period. There was no history of similar disorders/ unexplained fetal loss/ genital ambiguity in the families of either of the non- consanguineously married parents. He was delivered vaginally at term, without any adverse perinatal events. His birth weight was 2900 grams and he was started on exclusive breast-feeding. After the initial three uneventful postnatal weeks, he started having recurrent vomiting and was also noticed to have not gaining weight.

At the time of admission to our hospital, the child was severely dehydrated and lethargic.

Slight hyper-pigmentation was noted at the nipples and the scrotum. He was given supportive measures in the form of temperature maintenance and normal saline boluses to a total of 20ml/kg. He was started on antibiotics to cover possible sepsis and meningitis.

His investigations showed normal blood sugar, hyponatremia (Serum Na⁺-120 meq/l), hyperkalemia (Serum K⁺-6.2 meq/l) and moderate metabolic acidosis (pH-7.21, serum bicarbonate- 16 meq/L).

Accordingly, he was started on fluid therapy with targeted rehydration and increase in serum sodium by ~12 meq/L/24 hrs. The condition of the child improved gradually over the next 48 hours in terms of activity, feed intake and urine output. Serum sodium raised to143 meq/L with normokalemia and improved acidosis. Subsequently, intravenous fluids were stopped.

Investigations for the screening of sepsis, blood culture and CSF analysis did not reveal any evidence of sepsis.

After 24 hours of stopping parenteral fluids, the child was again noticed to be lethargic and severely dehydrated; however, with apparently preserved urine output. His serum sodium was decreased to 118 meq/L, with serum potassium 6.4 meq/L, with metabolic acidosis. He was restarted on parenteral fluid therapy. In the view of the recurrent documented hyponatremia, hyperkalemia and metabolic acidosis, the possibility of salt losing CAH was considered and after taking blood samples, he was started on the management of the adrenal crisis (hydrocortisone 100mg/m²/24 hours, Fludrocortisone 150µg/24 hours and twice maintenance volume of saline in 5% Dextrose). He gradually improved in the next two days) with elevated unstimulated serum 17–Hydroxy-progesterone (17-OH P) – 145 ng/ml (normal- <0.53- 1.86 ng/ml).

On the basis of these findings, the diagnosis of classic salt losing CAH was made. The steroids were gradually tapered over the next one week and the child was discharged on maintenance doses of steroids (Hydrocortisone 15mg/ m²/24 hours and Fludrocortisone 100 µg /24 hours). Salt replacement was given, with expressed breast milk.

DISCUSSION: Classic CAH is often left undiagnosed in male infants in the absence of routine screening programs in spite of being designated as the most common cause of the ambiguity of the genitalia in genetically female newborns and most of the males presented with life threatening Salt losing crisis [2]. It is important to consider this disorder in all cases of otherwise unexplained electrolyte/ metabolic abnormalities during the first few weeks of life. Appropriate timing for sampling, adequate dosing of deficient steroids and fluid replacement is the key for the successful diagnosis and management of adrenal crisis due to Classic CAH [3].

While on replacement therapy, the child should be closely followed up for growth, developmental, biochemical and radiological parameters to monitor the effect and to titrate the dose of the replaced steroids [4],[5]. The child should also be monitored for Cushingoid features due to excessive steroid intake and for the development of adrenal rest tumors in the testis, a well-known complication in male children and adults with classic CAH [6]. Information to parents regarding drug adherence, anticipated problems and stress dosing is vital for the appropriate management of these boys [7].

CONCLUSION: In the absence of routine neonatal screening, a high index of suspicion is essential for the diagnosis of CAH in males. Close monitoring of clinical and investigational parameters, along with adequate information to the parents is required for appropriate management.

REFERENCES:

1. Speiser PW, White PC. Congenital Adrenal Hyperplasia. N Engl J Med 2003; 349 : 776- 88.
2. Nordenstram A, Ahmed S, Jones J et al. Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening. Horm Res 2005; 63(1) : 22-8.
3. Forest MG. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Human Reproduction Update 2004; 10(6) : 469–85
4. Einaudi S, Lala R, Corrias A, Matarazzo P,Pagliardini S, de Sanctis C. Auxological and biochemical parameters in assessing treatment of infants and toddlers with congenital adrenal hyperplasia due to 21- hydroxylase deficiency. J Pediatr Endocrinol 1993; 6(2) : 173-8.
5. Livak K, Foster PJ, Thalange N, Tillmann V. Short-term growth in children with congenital adrenal hyperplasia. Horm Res 2009; 71(3) :142-7.
6. Claahsen-van der Grinten HL, Sweep FC, Blickman JG, Hermus AR, Otten BJ. Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol 2007; 157(3) : 339-44.
7. King J, Mitchelhill I, Fisher MJ.Development of the congenital adrenal hyperplasia knowledge assessment questionnaire (CAHKAQ). J Clin Nurs 2008; 17(13) : 1689-96.

CAH Baby