Congenital Adrenal Hyperplasia: Diagnostic Pitfalls in Prolonged Neonatal Jaundice.

Nur Athirah Rosli,Noor Shafina Mohd Nor,Md Yasin Mazapuspavina

doi:10.3390/clinpract11040102

Nur Athirah Rosli, Noor Shafina Mohd Nor + Show 1 more

Open Access

https://doi.org/10.3390/clinpract11040102

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Abstract

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that leads to cortisol deficiency. However, prolonged neonatal jaundice is a rare presentation of CAH. The pathophysiology of hyperbilirubinemia in CAH is still ill-defined. Plausible causes are related to the synthesis of bile, maturity of the liver and adrenal function. This case reported a neonate who presented with severe prolonged jaundice that lasted for more than a month. A short Synacthen test confirmed diagnosis of CAH. He was started on steroid replacement. He had regular follow-up under paediatric endocrinologist and primary care physician for long-term monitoring and overall health care. This case demonstrates the importance of recognizing the clinical and biochemical features of CAH for early detection and referral. Long-term follow-up and monitoring is necessary due to the risk of complications and side effects of medications. This is the first case of CAH presented with persistent hyperbilirubinemia to be reported from Malaysia. The case describes the difficult workup that has been encountered in the patient’s care and management.

Highlights

Prolonged neonatal jaundice is a rare presentation of Congenital Adrenal Hyperplasia (CAH)
CAH is a group of autosomal recessive disorders that results from enzyme deficiencies in the adrenal steroidogenesis pathway and affect the biosynthesis of mineralocorticoid and glucocorticoid, leading to low levels of aldosterone, cortisol and overproduction of androstenedione and subsequently high testosterone levels
CAH is a group of autosomal recessive disorders affecting cortisol and/or aldosterone biosynthesis depending on the spectrum of severity

Summary

Introduction

CAH is a group of autosomal recessive disorders that results from enzyme deficiencies in the adrenal steroidogenesis pathway and affect the biosynthesis of mineralocorticoid and glucocorticoid, leading to low levels of aldosterone, cortisol and overproduction of androstenedione and subsequently high testosterone levels. Male infants with 46, XY genotype who are diagnosed with classic CAH have subtle genitalia hyperpigmentation but normal-appearing genitalia and/or an enlarged phallus In these cases, there is a possibility of misdiagnosis and the infants may present with “saltwasting”, which is the body’s inability to maintain normal salt and water homeostasis [4]. Davis et al suggested that, in the first 14 days after birth, the cut-off for elevated conjugated bilirubin may be greater than 0.5 mg/dL [15] It is defined as a defect in either the formation or excretion of bile, with a resulting increase in the serum or retained biliary components (bilirubin, bile acids, or cholesterol) [16]. To the best of our knowledge, this is the first case from Malaysia describing atypical presentation of prolonged neonatal jaundice in CAH. This highlights the need to consider CAH as an important differential diagnosis of prolonged neonatal jaundice and in unexplained electrolyte abnormalities during the first few weeks of life

Case Report

15 April 2020

Ultrasound

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