Antonietta Tufano

Anthropometric, hormonal and biochemical differences in lean and obese women before and after menopause

The menopausal status is associated with an increased risk of metabolic and cardiovascular diseases. Since the post-menopausal modifications have not been clearly investigated in obese women, we evaluated the influences of menopausal status on anthropometric, hormonal and biochemical characteristics in selected groups of normal-weight and obese women. We studied 92 female outpatients: 24 normalweight pre-menopausal (Pre-NW) [body mass index (BMI) 23.6±0.48, age 44.8±0.68], 24 normal- weight post-menopausal (Post-NW) (BMI 23.7±0.44, age 55.5±0.69), 24 obese pre-menopausal (pre-OB) (BMI 32.3±0.45, age 44.6±0.75), 20 obese post-menopausal women (Post-OB) (BMI 32.9±0.57, age 55.2±0.82). All the subjects were non smokers and free from hypertension, diabetes or impaired glucose tolerance (IGT). Anthropometric parameters, body composition, 17 β-estradiol, LH, FSH, androstenedione, SHBG, testosterone and leptin were determined. Free androgen index (FAI) and insulin resistance index (HOMA) were calculated. In comparison with Pre-OB, Post-OB had higher values of waist circumferences (p<0.02), while Post-NW showed no difference. Total and LDL-cholesterol were high in Post-NW women, whereas in the obese subjects they were already elevated in the premenopausal period. SHBG levels declined and FAI increased in Post-OB in comparison with Pre- OB. SHBG levels showed an inverse correlation with BMI, waist and waist-to-hip ratio (WHR), while FAI positively correlated with waist values. Serum leptin levels were higher in Post-OB than in Pre-OB, whereas they were similar in normalweight women. The rise of leptin levels may be related to the greater abdominal fat deposition. In addition, menopausal status of uncomplicated obese women is associated with a greater abdominal fat deposition and with higher values of free androgen index, which may be considered as factors of cardiovascular risk.

Large Pituitary Hyperplasia in Severe Primary Hypothyroidism

Endocrinology and Diabetology Unit (E.P., A.T., B.A., S.C.), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Policlinico San Donato, 20097 San Donato Milanese, Milan, Italy; Department of Medical-Surgical Sciences (E.P., B.A., S.C.), University of Milan, 20097 San Donato Milanese, Milan, Italy; Department of Neurosurgery (M.L.), IRCCS Fondazione Ca’ Granda Policlinico, 20122 Milano, Milan, Italy; and Endocrinology Unit (A.G.L.), Department of Medical Sciences, University of Milan, IRCCS Fondazione Ca’ Granda Policlinico, 20122 Milan, Italy

The compliance of hypocaloric diet in type 2 diabetic obese patients: A brief term study

In studies of the effect of diets in obese type 2 diabetic patients, information about the degree of compliance or non-compliance is generally lacking or incomplete, though their poor long-term success rate is widely recognized. We have quantified the degree of short-term compliance with a personalized hypocaloric diet (800–1500 kcal) in 77 obese type 2 diabetic patients (mean age 60, mean BMI 34.4) three months after explaining their dietary schedule and its expected advantages by means of simple but essential nutritional advice lasting about 20 minutes of the type currently used for such patients attending diabetes care institutions or outpatient departments. Even though a mean 14% reduction in daily food intake was achieved, the mean daily energy intake at the interview (assessed by means of the 3-day recall method) still exceeded the prescribed diet by 40–50%. The worst compliance in terms of total excess energy intake or carbohydrate and fat intake was found in the older patients. The greater the excess of food intake, the poorer the metabolic control, as expected.

Pheochromocytoma in Congenital Cyanotic Heart Disease

Studies on genome-wide transcription patterns have shown that many genetic alterations implicated in pheochromocytoma-paraganglioma (P-PGL) syndromes cluster in a common cellular pathway leading to aberrant activation of molecular response to hypoxia in normoxic conditions (the pseudohypoxia hypothesis). Several cases of P-PGL have been reported in patients with cyanotic congenital heart disease (CCHD). Patients affected with CCHD have an increased likelihood of P-PGL compared to those affected with noncyanotic congenital heart disease. One widely supported hypothesis is that chronic hypoxia represents the determining factor supporting this increased risk. We report the case of a 23-year-old woman affected with congenital tricuspid atresia surgically by the Fontan procedure. The patient was admitted to hospital with hypertensive crisis and dyspnea. Chest computed tomography revealed, incidentally, a 6-cm mass in the left adrenal lodge. Increased levels of noradrenaline (NA) and its metabolites were detected (plasma NA 5003.7 pg/ml, n.v.<480; urinary NA 1059.5 µg/24 h, n.v.<85.5; urinary metanephrine 489 µg/24 h, n.v.<320). The patient did not report any additional symptom related to catecholamine excess. The left adrenal tumor showed abnormal accumulation when 131I-metaiodobenzylguanidine scintigraphy was performed. A 18F-fluorodeoxyglucose positron emission tomography showed no significant metabolic activity in the left adrenal gland but intense uptake in the supra- and subdiaphragmatic brown adipose tissue, probably due to noradrenergic-stimulated glucose uptake. The patient underwent left open adrenalectomy after preconditioning with α- and β-blockers and histopathological examination confirmed the diagnosis of pheochromocytoma (Ki-67<5%). Screening for germline mutations did not show any genes mutation (investigated mutations: RET, TMEM127, MAX, SDHD, SDHC, SDHB, SDHAF2, SDHA, and VHL). Clinicians should consider P-PGL when an unexplained clinical deterioration occurs in CCHD patients, even in the absence of typical paroxysmal symptoms.

Adrenal Ganglioneuroblastoma in Adults: A Case Report and Review of the Literature

Incidentally discovered adrenal masses are very common given the increased number of imaging studies performed in recent years. We here report a clinical case of a 20-year-old woman who presented with left flank pain. Ultrasound examination revealed a contralateral adrenal mass, which was confirmed at computed tomography (CT) scan. Hormonal hypersecretion was excluded. Given the size (11 × 10 × 7 cm) and the uncertain nature of the mass, it was surgically removed and sent for pathological analyses. Conclusive diagnosis was ganglioneuroblastoma. Ganglioneuroblastoma is an uncommon malignant tumor, extremely rare in adults, particularly in females. This neoplasm is frequently localized in adrenal gland.

Autoimmune Polyendocrine Syndrome 3 Onset with Severe Ketoacidosis in a 74-Year-Old Woman

Type 1 diabetes mellitus (T1D), autoimmune thyroid disease, and autoimmune gastritis often occur together forming the so-called autoimmune polyendocrine syndrome type 3 (APS3). We here report a clinical case of a 74-year-old woman who presented for the first time with severe hyperglycemia and ketoacidosis diagnosed as T1D. Further clinical investigations revealed concomitant severe hypothyroidism with autoimmune thyroid disease and severe cobalamin deficiency due to chronic atrophic gastritis. The diagnosis of type 1 diabetes mellitus was confirmed by the detection of autoantibodies against glutamic acid decarboxylase 65, islet cell antibodies, and anti-insulin autoantibodies. Anti-thyroperoxidase, anti-thyroglobulin, and anti-gastric parietal cell antibodies were also clearly positive. The case emphasized that new onset diabetic ketoacidosis, hypothyroidism, and cobalamin deficiency may simultaneously occur, and one disease can mask the features of the other, thereby making diagnosis difficult. It is noteworthy that an APS3 acute episode occurred in an asymptomatic elder woman for any autoimmune diseases.

Diagnosi di malattia di Cushing in una giovane donna africana

Una donna camerunense di 37 anni veniva ricoverata per ipopotassiemia refrattaria, associata a grave astenia, anoressia e importante calo ponderale. La paziente presentava da 3 anni ipertensione arteriosa, diabete mellito scarsamente controllato con antidiabetici orali e sindrome depressiva. La paziente aveva di recente portato a termine due gravidanze, entrambe complicate da gestosi. Obiettivamente non si evidenziavano pletora, strie rubre, irsutismo e gibbo, mentre erano apprezzabili facies lunare e acne al volto (Figura 1). Lo studio ormonale mostrava un marcato ipercortisolismo ACTH-dipendente, con perdita del ritmo circadiano, associato a ipotiroidismo e ipogonadismo centrali. Non si osservava soppressione dell’asse ipotalamo-ipofisi-surrene dopo desametasone 1 mg e 8 mg alle h 24. Una risonanza magnetica nucleare della regione ipofisaria evidenziava, a destra, una lesione ipointensa, di 12×7 mm, con focolaio necrotico centrale, estesa alle cisterne sovrasellari, indicativa di macroadenoma. La donna veniva perrtanto sottoposta ad adenomectomia ipofisaria per via transfenoidale. Dopo un decorso post-operatorio privo di complicanze, si osservava netto miglioramento dell’aspetto clinico (Figura 2), associato a normalizzazione della potassiemia, a un miglior controllo glicemico e a una progressiva riduzione dei livelli di cortisolo e ACTH basali. La pecualiarita del caso sta nel fatto che le caratteristiche razziali avevano reso difficoltoso l’approccio diagnostico iniziale, mascherando in qualche modo i segni clinici della malattia, che pur si presentava in