Choosing wisely: la lista del gruppo di studio Endocrinologia e Malattie del Metabolismo della Società Italiana di Patologia Clinica e Medicina di Laboratorio

Background.: The need to promote the appropriateness of diagnostic and therapeutic procedures increased in the recent years in the world and in Italy. Scientific societies participated from the beginning in defining modes and tools to support the members in the “translation” of this need in the clinical practice, for example defining lists of the diagnostic and therapeutic procedures with the highest risk of inappropriateness. The most relevant projects at international and national levels were, respectively, Choosing wisely e Slow Medicine. SIPMeL is supporting Slow Medicine and presented at 2015 SIPMel National Congress the list of the 5 procedures with the highest risk of inappropriateness in Laboratory Medicine. Methods.: In 2015 a survey has been carried out among the members of the Group of study Endocrinology-Metabolic diseases that were asked to vote (score 1–10) the five procedures with the highest risk of inappropriateness supporting their score with a short comment and essential references. Results.: The final list was obtained from the sum of the scores and includes: (1) optimal assessment of thyroid function; (2) optimal diagnostics of Cushing syndrome; (3) optimal diagnostics of pheocromocytoma; (4) optimal diagnostics for autoimmune thyroid disease; (5) assessment of 25 (OH) vitamin D. Conclusions.: The top five procedures have been presented at 2015 SIPMel National Congress and will be available in the Society website. We propose that also the other SIPMel groups of study prepare similar list and make them available within the Society and profession in a similar way

Unusual presentation of Denys-Drash syndrome in a girl with undisclosed consumption of biotin

We describe a 46,XX girl with Denys-Drash syndrome (DDS), showing both kidney disease and genital abnormalities, in whom a misdiagnosis of hyperandrogenism was made. A 15 year-old girl was affected by neonatal nephrotic syndrome, progressing to end stage kidney failure. Hair loss and voice deepening were noted during puberty. Pelvic ultrasound and MRI showed utero-tubaric agenesis, vaginal atresia and urogenital sinus, with inguinal gonads. Gonadotrophin and estradiol levels were normal, but testosterone levels increased up to 285 ng/dL at Tanner stage 3. She underwent prophylactic gonadectomy and histopathology reported fibrotic ovarian cortex containing numerous follicles in different maturation stages and rudimental remnants of Fallopian tubes. No features of gonadoblastoma were detected. Unexpectedly, testosterone levels were found elevated 4 months after gonadectomy (157 ng/dL). Recent medical history revealed a chronic assumption of a high daily dose of biotin, as a therapeutic support for hair loss. Laboratory immunoassay instruments used streptavidin-biotin interaction to detect hormones and, in competitive immunoassays, high concentrations of biotin can result in false high results. Total testosterone, measured using liquid chromatography tandem mass spectrometry (LC-MS/MS), was found within reference intervals. Similar testosterone levels were detected repeating the immunoassay two weeks after biotin uptake interruption. Discordance between clinical presentation and biochemical results in patients taking biotin, should rise the suspicion of erroneous results. Improved communication among patients, health care providers, and laboratory professionals is required concerning the likelihood of biotin interference with immunoassays

Laboratory diagnostics of adrenal diseases. Practice guidelines for pheochromocytoma and paraganglioma [La diagnostica di laboratorio delle malattie del surrene. Raccomandazioni pratiche per feocromocitoma e paraganglioma]

Pheochromocytoma is a catecholamine-producing neuroendocrine tumor derived from the neural crest. It is a rare tumor with an incidence in the general population of 2\u20138 cases per million population per year. Pheochromocytomas most commonly arise in the adrenal medulla but they can also occur extra-adrenally; these tumors are referred to as paragangliomas. The clinical presentation involves a constellation of signs and symptoms associated with catecholamine excess: hypertension (paroxysmal or sustained), sweating, pallor, headaches, palpitations, anxiety, dyspeptic complaints, paresthesias, visual disturbances, chest and abdominal pain