Endocrine Abstracts

Introduction: Primary thyroid lymphoma (PTL) is responsible for 0.6–5% of all cases of thyroid cancer and less than 2% of all extranodal lymphomas. PTL is more common in elderly women and are commonly of B-cell origin. Current treatment regimens for PLC consist of chemotherapy and external beam radiation. Surgery plays an important role, including the control of symptoms in large obstructive lymphomas.Aims and methods: Retrospective data review of p...

We describe the case of a 69-year-old woman with bilateral adrenal incidentalomas identified in CT-scan: on the right, a 57 mm heterogeneous mass with <10 Hounsfield units(HU) with absolute washout of 16%; on the left a 13 mm mass with 35UH, intense contrast enhancement but washout of 66%. She had a recent onset of diabetes, hypertension, androgenic alopecia and facial hair. The systolic blood pressure remained persistently >160 mmHg despite receiving four antihyperten...

Introduction: Pheochromocytomas are rare neuroendocrine tumors whose malignancy is defined by the presence of metastases that may appear several years later. The appropriate follow-up time remains uncertain.Clinical Case: We present the case of a woman with a history of pheochromocytoma who underwent complete resection at 48 years old. The genetic evaluation was negative for mutations on RET, VHL, SDHB or SDHD genes. At 66 years old, a thoracic vertebral...

Introduction: Pseudohypoparathyroidism is a heterogeneous disease characterized by hypocalcemia, hyperphosphatemia and parathyroid hormone resistance. The distinct pseudohypoparathyroidism types are distinguished by physical features, the coexistence of other hormone resistances and genetic defects. Pseudohypoparathyroidism type Ib is more often associated with sporadic cases, unlike others types.Clinical Case: Male, born in France, diagnosed with pseudo...

Introduction: The Dandy-Walker complex (DW) comprises a rare intracranial malformation of the posterior fossa and multiple organ anomalies. The association with endocrine pathology is rare - described in isolated cases (Kallman syndrome, primary hypothyroidism (PH) and central precocious puberty). Noonan syndrome (NS) is a genetic disease usually diagnosed at birth, with variable phenotype. Most cases have AD transmission, with the PTPN11 gene mutation responsible for 50%....

Background: Septo-optic dysplasia (SOD) is a rare congenital condition diagnosed in children with two or more of hypothalamo-pituitary axis dysfunction, midline brain abnormalities, and optic nerve hypoplasia. SOD has a heterogenous clinical phenotype, characterised by varying visual impairment and endocrine dysfunction. Autistic-like behaviours have also been reported in children with SOD, however the nature of these neurobehavioural impairments remain to be fully understood....

Thyroid hormone resistance syndrome(THRS) occurs in 1:40000 live births and can be diagnosed after a period of enigmatic changes in thyroid hormones(TH). Patients may be clinically euthyroid, have clinical hypo or hyperthyroidism. Mostly, it is an autosomal dominant disease due to germline mutations in THRβ-gene(exons 7-10). Resistance to peripheral action of TH leads to absence of TSH suppression (which can be normal/elevated) despite elevated fT4 and fT3.<p class="a...

Introduction: The clinical and biochemical spectrum of pituitary acromegaly is wide and variable. There are pure somatotroph tumors(ST), immunohistochemically positive only for GH, and pluri-hormonal(PL), also positive for other hormones, and they appear to have different presentations and responses to treatment.Aims: To compare the clinical presentation, imaging characteristics and response to treatment of acromegalic patients according to the pituitary...

Introduction: Evidence has suggested a relationship between female obesity and the outcomes of medically assisted reproduction techniques (MRT); however, the evidence regarding male obesity is still scarce and discordant. Aim: Evaluate the influence of female and male obesity on the results of MRT.Materials and methods: Retrospective analysis of 2159 couples, with and without obesity, submitted to the first treatment of medically a...

Introduction: Oestrogens and androgens modulate the effects of growth hormone (GH). Sex differences have been described in acromegaly, with conflicting results in different populations. Additionally, data on sex differences in tumour histopathology are scarce.Aims: To analyse the influence of sex and menopause status in tumour characteristics and surgical outcomes in patients with acromegaly.Materials and methods: Retrospective coh...