Endocrine Abstracts

Diagnosis of Cushing’s syndrome (CS) can be challenging, particularly in mild cases or in cyclic disease, because of the variable, non-specific clinical manifestations and the overlap with more common medical problems. Female patient was referred to our clinic in Dec 2015, at the age of 18 years, presented with headaches, arterial hypertension (AH), excessive body hair growth, irregular menstrual periods, sleep disturbances and mood fluctuations. She smoked, but denied use of alcohol or any drugs. Menarche occured at 10 years of age and her menstrual cycle (MC) was regular. At the age of 14 years she had noticed excessive body hair growth, alopecia, weight gain (15 kg), purple striae and menstrual irregularities. At examination in pediatric clinic AH, normal morning cortisol, TSH, prolactin, electrolites, elevated testosterone and DHEA-s levels were detected. Her brain’s MRI and CT of adrenal glands were unremarkable. US showed multifollicular ovaries. She was followed by pediatricians with the diagnosis of PCOS, obesity. Oral contraceptives were not effective to control her MC and were discontinued. In 2015 she lost weight (15-20 kg) with striae discoloration and her MC was temporarily restored without specific treatment. In a few months the described symptoms had returned and she was referred to endocrinologist. At examination in Dec 2015 plethoric rounded face, hyperstenic constitution, normal BMI (23 kg/m²), hirsutism (lower abdomen, hips, lumbal area), acne, pale striae, AH were found. 24-h urine free cortisol within the normal range, slightly elevated testosterone, androstendione and ACTH (48 ng/ml, ULN 46) levels, normal TSH, prolactin, OGTT, electrolytes and liver function tests were revealed. Further investigation demonstrated ACTH at the upper border of normal range (46 ng/ml), but inadequate suppression of plasma cortisol (350 nmol/l) and ACTH (44 ng/ml) after overnight 1-mg DST. At the same time 6 x 3 mm microadenoma on pituitary MRI had been detected. The diagnosis of ACTH-dependent endogenous hypercortisolism - Cushing’s disease (CD) was established and confirmed by subsequent deterioration of laboratory parameters accompanied by weight regain. Symptoms of hypercortisolism have completely disappeared after repeated transsphenoidal adenomectomy in 2016-2017. This case demonstrates the delayed diagnosis of CD with first clinical presentation at the age of 14 years, resembling PCOS. Fluctuating signs of cortisol excess and inconsistent laboratory results raise suspicion about cyclic CD. As no single diagnostic test is 100% accurate in the diagnosis of CS/CD, repeated monitoring is needed. Education of pediatricians and gynecologists to maintain awareness about CS/CD is required.