ACTA ENDOCRINOLOGICA (BUC)

Background. Congenital hypothyroidism (CH) is the most common congenital endocrine disease with reported high prevalence of associated congenital anomalies which are also present in case of congenital cytomegalovirus (cCMV) infection. Subjects and Methods. We present two cases of newborns cCMV infection with CH. In the first case thyroid agenesis was diagnosed and cCMV infection was also confirmed for the hypotonia persistence after L-thyroxine treatment. In the second case thyroid dyshormonogenesis was diagnosed with maternal CMV serological conversion in the first trimester of gestation and confirmed post-neonatal infection. Incidence of CH has increased in the Italian region of Piedmont in the years 2014-2019 up to 1:1090 with higher incidence of cCMV infection in the babies with diagnosis of CH (12/1000 vs. 5-7/1000 in the newborns without CH). To our knowledge, no data on the association of cCMV infection with a CH condition have been reported in the literature to date. Conclusions. The described cases could be useful to alert caregivers in case of maternal seroconversion to avoid maternal and foetal hypothyroidism. On the other hand, when the clinical condition of newborns with CH diagnosis do not improve after l-thyroxine treatment, it might be important to consider cCMV infection.

Endogenous Cushing’s syndrome is rare, with an incidence of 0.7–2.4 per a million people a year. Clinical presentation of Cushing syndrome can be pleomorphic, and establishing diagnosis can be difficult. Early recognition and rapid control of hypercortisolaemia are necessary to decrease morbidity and mortality in these patients. We report a series of 6 endogenous Cushing’s syndromes of different etiologies (4 Cushing’s disease and 2 adrenal Cushing’s syndrome) assessed in our endocrine department over a decade (2009-2019). In order to highlight the diversity of clinical forms, diagnostic tools and specific management of this condition we labelled each case suggestively: the typical Cushing’s disease, the Pseudo Cushing’s, the elusive Cushing’s disease, the mild autonomous cortisol hypersecretion, Cushing’s syndrome in pregnancy and Cushing’s disease with thromboembolism. We discussed their particularities which were revelatory for the diagnosis, such as dermatologic, cardiovascular, musculoskeletal, neuropsychiatric, or reproductive signs, reviewing literature for each manifestation. We also discuss the commonalities and differences in laboratory and imagistic findings. Therapeutic approach can also differ with respect to the particular condition of each patient and the multiple choices of therapy will be reviewed.