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.39
Neonatal adrenal insufficiency commonly presents as persistent hypoglycaemia, hyponatraemia, hyperkalaemia, acidosis, and hypotension.39 Isolated cortisol deficiency can cause cholestasis in neonates and young infants.40
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.40
Early detection is vital as in the absence of treatment, hormone deficiencies can result in life-threatening acute events and long-term morbidities.41
Diagnosis
39. 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.
40. 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.
41. 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
