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.

Abstract Introduction. Turner syndrome, a genetic disorder with an exclusively feminine phenotype, is caused by complete or partial X monosomy in some or all cells. Although the condition is usually diagnosed after birth, now, it is possible to detect the syndrome prenatally. Case reports. We present two cases of Turner syndrome diagnosed during the first trimester of pregnancy. The condition was suspected because of several ultrasound signs and was confirmed in both cases after an invasive prenatal technique. In one case, the fluorescent in situ hybridization technique was applied. In the other case, the chromosomal anomaly was detected using the G banding technique. Threedimensional ultrasound and HDlive technology were extremely useful in helping the patients to better understand the fetal pathology and accept an invasive procedure as a final step in establishing the diagnosis. Conclusion. These cases demonstrate the importance of using ultrasound as a screening method to detect suspected cases of Turner syndrome, however, the disorder needs to be confirmed with chromosomal analysis after performing an invasive prenatal technique.

Pituitary stalk interruption syndrome (PSIS) consisting of the triad: ectopic posterior pituitary (EPP), thin or absent pituitary stalk and anterior pituitary hypoplasia is a rare pituitary malformation with variable degrees of pituitary insufficiency, from isolated growth hormone deficiency to TSH, gonadotropin and ACTH deficiency which may occur in time, with normo, hyper or hypoprolactinemia and central diabetes insipidus in up to 10% of cases. Also, extrapituitary malformations have been described in some cases. Genetic defects were identified only in 5% of cases. MRI findings are considered predictive for the endocrine phenotype. We aim to describe two cases with PSIS without central diabetes insipidus, anosmia and extrapituitary malformations, except for minor head dysmorphic features. The first case was referred at the age of 4 years for short stature (-4SDS for height, bone age 2 years), diagnosed with severe GH deficiency and developed central hypothyroidism and hypoprolactinemia during five-years follow-up. The second case, a 26 year old male with birth asphyxia, cryptorchidism, poor growth in childhood and adolescence (-3 to -4 height SDS), absent puberty and normal adult height (-1.18 SDS; bone age 15.5 years and active growth plates) had GH, TSH, ACTH deficiency and low normal PRL levels. Increasing medical awareness on PSIS clinical and endocrine heterogeneity may help a more early and accurate diagnosis. Corroboration of neuroimaging and endocrine data will improve our knowledge and understanding and will create premises for molecular diagnosis, genetic counseling and a better patients’ management.

Context. Patients with renal malignancies present high risk of adrenal hyperplasia and adenoma, and part of these are primary lesions, mostly non-functional. Here we presented a case diagnosed as primary adrenal adenoma with autonomous cortisol secretion accompanied by homolateral renal cell carcinoma. Case presentation. A 79-year-old woman was referred for evaluation of a left adrenal mass, with a past medical history of severe hypertension, diabetes, and hyperlipidemia. On examination, no clinical signs of cushingoid features were found. Biochemical measurements showed plasma cortisol was 12.77 μg/dL and was not suppressed by 1 mg dexamethasone (DXM) overnight test (13.6 μg/dL). The contrast CT scan presented a 2.2 cm diameter adrenal mass and revealed, unfortunately, a hyperdense mass at the middle-upper pole of the left kidney. Laparoscopic nephrectomy with left adrenalectomy was performed and pathological examination indicated a final diagnosis of benign adrenocortical adenoma and renal clear cell carcinoma. At 2 months postoperatively, without replacement treatment of cortisol, a recovery of circadian rhythm of cortisol secretion was detected, indicated recovery of the hypothalamic-pituitary-adrenal axis. Conclusions. Patients with renal cancer might be accompanied with functional adrenal adenoma. Therefore, screening for adrenal function should be recommended in patients with renal tumors and/or adrenal incidentaloma.

Introduction.Cardiomyopathy secondary to severe hypocalcaemia can lead to death when misdiagnosed. However, it can respond favorably to calcium and vitamin D as in this observation.\r\nCase report. SB, 50 years old, was hospitalized for heart failure. He was operated on for cataracts and treated for epilepsy, but was not known as having heart problems.\r\nClinical examination revealed global heart failure. Chest x ray showed cardiomegaly with bilateral pleural effusion. Echocardiography demonstrated myocardium dilatation with an\r\nimpaired systolic function (ejection fraction = 38%, N≥ 60). Heart screening did not find any cause, but laboratory investigation diagnosed severe hypocalcemia (mean value: 26mg/L (N=80-105) or 0.65 mmol/L), high phosphorus (61.5mg/L, N=25-45), and low parathormone (6.51 pg/mL, N=15-65 pg/mL). Corrected calcium according to protidemia\r\nwas 0.69 mmol/L. Magnesium was normal. Brain CT scan showed bilateral and symmetrical calcifications of basal ganglia\r\narguing for Fahr?s syndrome. After calcium (1g) and vitamin D (2, then 3 μg/day) during one week, cardiac abnormalities improved promptly. Three months later seizures disappeared totally after stopping anti epileptic drugs.\r\nConclusion.The fast reversibility of heart failure and seizures under calcium suggests observed symptoms were due to hypocalcaemia, seemingly installed on a previously normal heart function. So, calcium assessment should be checked systematically in heart insufficiency.

Severe hypercalcemia is often caused by primary hyperparathyroidism (PHP), which is not commonly seen in patients with systemic lupus erythematosus (SLE). In this case report a 77 years old woman with a history of SLE develops mild hypercalcemia secondary to unrecognized PHP that leads to a hypercalcemic crisis with a prolonged recovery. Therefore, early diagnostic evaluation of persistent hypercalcemia in patients with SLE is important for detection and appropriate treatment of PHP to avoid a hypercalcemic crisis and associated prolonged morbidity.

Introduction. This case report is the fourth of its type in the medical literature. It describes total thyroidectomy for recurrent relapses of Graves encephalopathy (GE) despite medical treatment. Case presentation. A 33-year-old male presented with impaired consciousness and convulsions. He had postthyroid surgery recurrent Graves’ disease with a goitre. Based on this fact, high thyroid antibodies titres and the exclusion of other causes of such neurological manifestations, he was diagnosed to have GE. This is a rare variant of “encephalopathy associated with autoimmune thyroid disease” (EAATD). Despite the administration of steroid therapy and other standard therapeutic measures, he developed five relapses within 17 months. Total thyroidectomy was advised. Unfortunately, he got another severe attack that required intensive care admission. After three days of discharging, he had urgent total thyroidectomy. The operation went well and for 18 months’ follow-up he had no more attacks. However, thyroid antibodies remained high. Discussion. The report provides details on the diagnosis, standard management and the indication for thyroidectomy for GE. It describes its challenges, precautions, technique and outcomes. It reviews the extent of surgery as well as the clinical and antibody outcomes of the previous three related reports, in comparison with the current one. Conclusion. For medically uncontrolled relapse of GE, thyroidectomy consistently results in ending the attacks. It, therefore, should be put in more consideration in the treatment protocols. On the other hand, one should not depend on antibody levels as a measure of treatment success.

Gender diversity is currently recognized as a natural variation of human identity rather than a pathological condition, with the term “gender identity disorder” being replaced in the eleventh revision of the International Classification of Diseases and Related Health Problems (ICD‐11) by “gender incongruence” and reclassified under “conditions related to sexual health” rather than within “mental and behavioral disorders”. Lack of access to genderaffirming care or delays in treatment are associated with poorer physical, psychological, and social outcomes. Current concepts and clinical practices in gender-affirming care focus on the multidisciplinary integration of endocrine and surgical management. This review summarizes diagnostic considerations and surgical perspectives on transgender patient care from a plastic surgery standpoint, while endocrinology specialists manage hormonal therapy. Surgical treatment for transgender women may include procedures such as breast augmentation, body contouring procedures, vaginoplasty, facial feminization, reduction of the thyroid cartilage, and surgeries intended to alter voice characteristics. The surgical options for transgender men include bilateral mastectomy, placement of pectoral implants to create a male-contoured chest, total hysterectomy and salpingooophorectomy, vaginectomy, scrotoplasty, placement of testicular prostheses, metoidioplasty or phalloplasty, and body contouring procedures. This review aims to support clinicians by synthesizing current evidence and best practices to promote safe, effective, and individualized multidisciplinary treatment for transgender and genderdiverse patients.

Insulinoma in a patient with pre-existing diabetes mellitus is very rare.\r\nWe report a case of a malignant insulinoma in a 78-year-old patient with type 2 diabetes mellitus who, after 6 years of insulin treatment, experienced recurrent episodes of\r\nhypoglycaemia, with progressive reduction of dosage to cessation. Endogenous hyperinsulinism was confirmed: glucose 35 mg/dL (74- 106), insulin 23.7 μU/mL (7- 17),\r\nand negative test for sulphonylureas in the plasma. Endoscopic ultrasonography, magnetic resonance and axial computer tomography identified a non-resectable pancreatic tumour, an infiltrating mesenteric vein, as well as metastatic lesions in the liver. After chemoembolization of metastases, initial reduction of hypoglycemic attacks occurred. A few months later, hypoglycaemia recurred, and combined treatment with somatostatin analogs and diazoxide was employed. Although hypoglycemic agents are the commonest\r\ncause of hypoglycemia in type 2 diabetes, insulinomas may occur in these patients. A high degree of suspicion for the presence of an insulinoma should be maintained when\r\nunexplained hypoglycemic episodes occur in a patient with previously stable diabetes despite dose adjustment or cessation of the drugs.

Objective. The association of type 1 diabetes mellitus with autoimmune thyroiditis or with celiac disease is frequently mentioned in literature, but the concomitant presence of these three autoimmune diseases, especially in adults, represents a rarity. Case report. We present the case of a young man with severe generalized oedema admitted to the emergency department and diagnosed with severe hypothyroidism (TSH=100 μUI/mL, fT4 = 0.835 pmol/L) in the context of a long-lasting autoimmune thyroiditis (anti-TPO antibodies 64 UI/mL, anti-TG antibodies 17 UI/mL, the thyroid ultrasonography). At the same time, he was diagnosed with type 1 diabetes mellitus. He was also submitted to further tests which confirmed the diagnosis of celiac disease (endoscopy with intestinal mucosa biopsy, confirmed by immunological tests). The association of these three diseases slows down the process of reaching a final diagnosis and delays the adoption of a therapeutic strategy. Conclusion. This case underlines the difficulty of differential diagnosis of severe oedema syndrome with polyserositis in a patient with polyglandular autoimmune syndrome. Whenever there is a suspicion of the association of these autoimmune diseases, the evolution of the patient is unpredictable and most medical results are highly dependent upon the decision of applying a concomitant treatment.