Cortisol deficiency may result from a primary adrenal process, owing to maldevelopment, malfunction, or destruction of the gland, or be secondary to dysfunction of the hypothalamic-pituitary-adrenal axis.27
Neonatal adrenal insufficiency commonly presents as with persistent hypoglycaemia, hyponatraemia, hyperkalaemia, acidosis, and hypotension.27 Isolated cortisol deficiency can cause cholestasis in neonates and young infants.28
Cholestasis is a frequent symptom on presentation of pituitary stalk interruption syndrome (PSIS) during the neonatal period and is associated with profound cortisol deficiency. Detecting cholestasis may help earlier diagnosis of hypothalamic-pituitary deficiency especially when observed after a breech presentation, or when associated with hypoglycaemia, micropenis and cryptorchidism or with ophthalmic malformations.28 It may also present in the setting of pan-hypopituitarism..
Early detection is vital as in the absence of treatment, hormone deficiencies can result in life-threatening acute events and long-term morbidities.29
Diagnosis
Presentation of a young infant with cholestasis and hypoglycaemia should alert paediatricians to the possibility of cortisol deficiency and prompt investigation of adrenal function should be undertaken.28
27. Gujral J, Yau M, Yang AC, et al. Primary cortisol deficiency and growth hormone deficiency in a neonate with hypoglycemia: coincidence or consequence? J Endocr Soc 2019;3:838-46.
28. Al-Hussaini A, Almutairi A, Mursi A, Alghofely M, Asery A. Isolated cortisol deficiency: a rare cause of neonatal cholestasis. Saudi J Gastroenterol 2012;18:339-41.
29. Mauvais FX, Gonzales E, Davit-Spraul A, Jacquemin E, Brauner R. Cholestasis reveals severe cortisol deficiency in neonatal pituitary stalk interruption syndrome. PLoS One 2016;11:e0147750.
Those requiring urgent treatment:
Biliary atresia
