ACTA ENDOCRINOLOGICA (BUC)

A 75 years old woman was referred to abdominal echography for pain related to biliaryduodenal motriceal dysfunction. The ultrasound discovered a dense (hyperechogenic) image under (posterior of) the 8th segment of the liver. The dense process was supposed to be a calcification situated medial from the right kidney in the cranial 1/3 length of it. Specific clinical and biological data related to possible adrenal destruction were analyzed: the patient was in good condition, body mass index was 29. She had no tuberculosis during her life. The current arterial pressure was 145/80 mm Hg. All laboratory data, including basal cortisol were normal. Cortisolemia at 8 a.m. was 523 nmol/l. The diagnosis was made by CT scan: clear and only organ-disseminated calcification in adrenals appeared as a rim. The management of this case was related to follow-up of adrenal lesions by abdominal ultrasound.\r\nThe calcification of one adrenal raised several issues for discussion: the role of ultrasound vs CT in adrenal lesions, the prevalence of calcifications in adrenal glands, the importance of the calcification process. Calcifications of adrenals are seldom found in primary autoimmune cortical atrophy associated with Addison's disease, but they are supposed to be more frequent in adrenal tuberculosis; calcification suggests a former local tuberculosis process, associated with pulmonary tuberculosis and with borderline adrenal insufficiency. Various etiologies and mechanisms for adrenal calcifications (infectious, tumor, hemorrhage, parasitic) are discussed. To our knowledge, the rim-like appearance of the adrenal calcification was described only in one patient. In conclusion, incidental diagnostic of adrenal gland calcifications was reported in patients without adrenal insufficiency, signaled by ultrasound and detailed by CT, associated with normal adrenal function. Therefore, we consider that calcifications in the right adrenal in our patient could mean a process of cicatrisation or healing after an autoimmune aggression, only on the right adrenal gland.

Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by mutations of 3-hydroxysterol –7reductase gene (DHCR7) which maps to 11q12-13 and was the first discovered defect in cholesterol biosynthesis resulting in a congenital dysmorphology syndrome. We present the case of a 46,XY newborn with ambiguous genitalia and multiple congenital anomalies (atrial septal defect, ventricular septal defect, syndactyly of the second and third toe, cleft palate, webbed neck, small fontanels, mesomelia, simian palmar crease, micrognathia, wide nasal bridge with anteverted nostrils, low set ears). Hormonal assessment performed at twelve days revealed a decreased testosterone level (0.03 ng/mL), a high estradiol level (448.8 pg/mL), normal LH (2.8UI/mL), DHEAS (86.61?g/dL), progesterone (1.34ng/mL) and 17 hydroxyprogesterone (1.08ng/mL) levels. Cholesterol was low (44mg/dL) confirming the diagnostic of Smith-Lemli-Opitz syndrome.