Congenital adrenal hyperplasia (CAH) is a group of inherited autosomal recessive disorders resulting from defects in adrenal steroid biosynthesis, most commonly due to 21- hydroxylase deficiency. The condition is characterized by impaired cortisol synthesis, with or without aldosterone deficiency and excess androgen secretion. Clinically, CAH may present in the neonatal period with life-threatening salt -wasting crises and /or ambiguous genitalia in virilized female infants. Early diagnosis and prompt initiation of appropriate therapy are essential to prevent significant morbidity and mortality. However, in resource -limited setting where awareness and newborn screening is unavailable, diagnosis is often delayed, posing significant challenges in optimal management and long -term outcome.
Case summary and discussion
A 4½-month-old infant referred by a local pediatrician for failure to thrive and ambiguous genitalia was first evaluated in November 2023 at the Pediatric Endocrine Clinic at Yangon Children ‘s Hospital. At presentation, the infant weighed 4.2 kg, with an occipitofrontal circumference of 35.5 cm. Head control had not yet been achieved.
The infant was born in June 2023 at a peripheral hospital by elective lower-segment caesarean section. At birth, ambiguous genitalia was noted, but no further evaluation was performed.During infancy, the child had poor feeding and inadequate weight gain, requiring hospital admission for lethargic and failure to thrive on Day 45 and the pediatrician noticed the ambiguous genitalia and started PO hydrocortisone and fludrocortisone. The documents were lost. At around four months of age, the infant developed episodic upward rolling of the eyes with events suggestive of seizures. Serum sodium at that time was 120 mmol/L (135 – 145). The child needed intravenous hydrocortisone, intravenous fluid and was discharged with PO hydrocortisone and fludrocortisone. And then referred to Pediatric Endocrines and Diabetes Clinic at Yangon Children’s Hospital.
On examination, the external genitalia were consistent with a virilized female, with clitoromegaly and partial labioscrotal fusion, and a single urogenital opening. No palpable gonads were present in the labioscrotal folds or inguinal region. Initial biochemical evaluation at our clinic in November 2023 showed hyponatremia (Na 132 mmol/L), hyperkalemia (K 6.5 mmol/L), low bicarbonate (17 mmol/L), low serum cortisol (15.34 nmol/L), and markedly elevated ACTH (242.4 pg/mL). Thyroid function tests were within normal limits. Given the presence of virilized external genitalia, failure to thrive, electrolyte abnormalities, low cortisol, and elevated ACTH, congenital adrenal hyperplasia was strongly suspected and the child received inadequate replacement.
Karyotyping performed in November 2023 demonstrated a 46,XX chromosomal complement. Serum 17-hydroxyprogesterone was markedly elevated at 32.72 ng/mL (reference range 0.03–0.9 ng/mL), confirming the diagnosis of 21-hydroxylase–deficient congenital adrenal hyperplasia.
The parents were counseled in detail about the diagnosis, chronic nature of the condition and the need for long-term management. The disease process, treatment plan, possible complications were clearly explained. The appropriate pharmacological replacement (hydrocortisone, fludrocortisone and salt tablets) , regular monitor including growth and development, education about adrenal crisis, scheduled for long-term follow up were implemented to ensure optimal ongoing care.
On follow-up in February 2024, the infant showed significant clinical improvement, and achievement of head control . Gross motor development had improved, with better truncal stability and developmental progression. Serum electrolytes had normalized.
The child is now 2 years and 6months old, the body weight (11kg) and height (83 cm) are between 10th and 25th centiles . She can speak two-words sentences and motor development achieved for her age. There is no more clitoromegaly. Repeat hormonal assessment in December 2025 revealed persistently elevated ACTH ( 186.4 pg/ml) with low serum cortisol, indicating the need for continued monitoring and optimization of steroid replacement. Bone age assessment showed normal , while renal function and electrolytes remained stable. We have plan to consult with Pediatric Surgical team later.
We have managed nearly 80 cases of CAH and Disorder Sex Development since the establishment of the Pediatric Endocrine Clinic at YCH in 2014. These cases have been managed to the best of our ability with the available recourse. Given the nature of the disease, which requires long-term management and a multidisplinary approach. It is a long way to go. We are trying our best to ensure that the children receive optimal care.
Learning Points
The late presentation of CAH in resources limited setting is common.
- Early awareness and Diagnosis are critical.
Early recognition of CAH is critical to prevent long term health complications. In resource -limited setting, delay in diagnosis may lead to failure to thrive and electrolytes imbalances, significantly affecting the child’s health and development. - Sex assignment and family ImpactThe decision regarding sex rearing in children with CAH is complex and has profound emotional and psychological impacts on family. Proper counseling and support are essential.
- Limited resources and referral pathway
Health care providers should be familiar with the available resources and referral pathways in the region. Connecting the families with appropriate specialists and support services is essential, especially when the resources are scarce.
References
- Speiser, P. W., & White, P. C. (2003). Congenital adrenal hyperplasia. New England Journal of Medicine, 349(8), 776–788. https://doi.org/10.1056/NEJMra021561
- Merke, D. P., & Bornstein, S. R. (2005). Congenital adrenal hyperplasia. The Lancet, 365(9477), 2125–2136. https://doi.org/10.1016/S0140-6736(05)66732-6
- Sperling, M. A. (2020). Pediatric Endocrinology (5th ed.). Elsevier. Chapter on Congenital Adrenal Hyperplasia
Author Information
Mya Sandar Thein
AP/SCS Pediatrician
M.B.B.S, M.Med.Sc ( Paed)
MRCPCH , FRCPCH
Senior Consultant Pediatrician
Yangon Children’s Hospital
