Endocrine Abstracts

Neonatal Cushing syndrome (CS) is a rather rare disease. The majority of these few cases are of ACTH dependent origin or caused by a unilateral adrenal tumour (carcinoma or adenoma), however ACTH independent bilateral hyperplasias stand for only a few percent of all cases. The management of neonatal CS depends on the underlying cause – if found in time - of the disease. In the past the survival rate of children with CS was low, new and renewed medical attempts have improved this over the last decades. Our patient was born in March 2020 after an apparently uneventful pregnancy on 35. gw with 1850 g birthweight. At 4 weeks an excessive weight gain was recognized, and the first laboratory findings indicated severe hypercalcaemia (3, 27 mmol/l), extremely high cortisol (1777, 7 nmol/l) and suppressed ACTH level. These findings altogether indicated an ACTH-independent form of neonatal CS. Abdominal MRI revealed a bilateral micronodular hyperplasia of the adrenal gland. As his clinical condition was quite unstable due to consequences of hypercortisolism present (severe hypercalcaemia, hyperglycaemia, hypertension, ventricular hypertrophy, hepatopathy, muscle weakness) an asap conservative treatment administration was decided. Metyrapon has a long history in endocrine diagnostics, but its use as a therapeutic option is newfangled. An oral solution was induced in our case which proved to be effective in decreasing the cortisol levels; in order to avoid hypadrenia a ’block&replace’ method was started. As the oral tolerability of Metyrapon was poor, after a few attempts we switched to rectal administration. Some of the consequences of hypercortisolism resolved in days/weeks/months, but hypertension, tachycardia, muscle weakness and slow weight gain is still present. At the age of 3 months café-au-lait spots appeared on the back and in the perianal region indicating a possible presence of McCune-Albright syndrome which concurred the MRI finding. To have the proper diagnosis both the blood sample and the skin biopsy was investigated for the presence of GNAS/PRKAR1A mutations, but no mutations were found. As the patient still needs a proper diagnosis of his condition, meaning that the prognosis of the disease (e.g. the self-limiting nature as seen in some cases) is still unknown his care is planned to be conservative with all supporting treatments needed (beta-blocker, physiotherapy) and thorough screening of all possible symptoms of diseases causing neonatal CS.