Endocrine Abstracts

Introduction: Diffuse lipomatosis of the thyroid is a very rare disease, characterized by extensive infiltration of thyroid parenchyma by mature adipose tissue. It is not accompanied by accumulation of amyloid fibrils.Clinical report: Male, 47 years old, followed in Endocrinology by hypothyroidism, since 13 years old, medicated with levothyroxine, with unremarkable growth and pshicomotor development. In 2002, thyroid echography showed a solid and heterog...

Introduction: ‘PreDiabetes’ was considered as a categories of increased risk for diabetes on the last ADA recommendations in 2010. The proposed diagnostic criteria include an HbA1c value between 5.7 and 6.4%, impaired fasting glucose (IFG) (100–125 mg/dl) and impaired glucose tolerance (IGT) levels (2-h values in the oral glucose tolerance test (OGTT) of 140 to 199 mg/dl). The HbA1c as new diagnostic criteria may actually increase the number of patients diagnose...

Background: The Scottish Genital Anomaly Network(SGAN) is a national managed clinical network that provides care to patients with a suspected disorder of sex development(DSD). Factors that influence the decision to perform a karyotype in suspected DSD are unclear.Aim: To explore the SGAN register to study the factors that influence the decision to perform a karyotype. Variables examined included centre of presentation, examination findings and associated...

A 16-years-old male, with familiar precedents of familiar macrocephaly, he has been visited in external consultations of digestive in 2008 because he had rectal bleedings. A colonoscopy was made two times, in those situations some intestinal polyps have been extirpated. The result of the pathological antomy was polyps ganglioneuromas.Due to the pathological compatible anatomy with ganglioneuromas, it stemmed to external consultations of endocrinology to ...

Small cell lung cancer (SCLC) is an aggressive neuroendocrine tumour that shows early metastasis and resistance to chemotherapy. Current biomarkers focus on prognosis and diagnosis but there is a need to find novel biomarkers, which could, for example, identify patients at risk of cerebral metastases.Pro-opiomelanocortin (POMC), the precursor of ACTH is a well-recognised biomarker of the ectopic ACTH syndrome1, of which SCLC is the most preval...

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct neurogenetic disorders involving the imprinting mechanism at 15q11–13 region. We report on 4 years and 9 months old boy who was referred to our laboratory in order to investigate a clinical bilateral cryptorquidy. The patient was born to non-consanguineous and healthy biological parents. Informed consent for publication was obtained from the parents. After normal pregnancy, the patient was delivered by ca...

Background: The androgen-secreting tumors constitute fewer than 1% of ovarian tumors. Leydig cell tumor is one of the most common of this type of lesion and it is usually benign, small and unilateral.Case report: A 67-year-old women was referred to the Endocrine clinic due to hirsutism (score 22 Ferriman–Gallwey) and male type alopecia with 3 years of evolution and progressive worsening. Biochemically she had high levels of serum testosterone –...

Background: Size at birth has been shown to have important consequences on later health, including the development of the metabolic syndrome. Tissue sensitivity to cortisol is regulated, in part, by the GCR and alterations in GCR expression have been observed in obesity and type 2 diabetes.Objectives: To examine whether birth weight influences the expression of GCR mRNA in skeletal muscle (SM) at days 7 and 14 of postnatal life.Met...

The differential diagnosis of raised circulating thyroid hormones with normal TSH includes familial dysalbuminaemic hyperthyroxinaemia (FDH), a benign, inherited disorder caused by a variant albumin with increased affinity for thyroxine (T4) or triiodothyronine (T3). Three different albumin gene mutations, generating mutant proteins with increased affinity for either T4 (R218H,R218P) or T3 (L66P) have been commonly described. Typically, serum total T4 is raised and free T4 mea...

Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene. We aimed to perform a genotype-phenotype analysis in Romanian patients with classical 21-hydroxylase deficiency.Patients and methods: We included 42 patients (13 males, 29 females, 19 with the salt wasting (SW) form, 29 with the simple virilizing (SV) form. Molecular analysis was performed by direct sequencing of PCR ampl...