Endocrine Abstracts

Introduction: Obesity in children is rising worldwide with premature development which could involve greater risk of complications and comorbidities in adult life. Central adiposity is a well known feature of glucocorticoid excess and there are some speculations that cortisol biosynthesis is involved in pathogenesis of metabolic syndrome. However the circadian rhythm of cortisol axis or incrimination of cortisol excess in obese children is less known. Our aim is to investigate...

Introduction: 48, XXYY is a rare sex chromosome aneuploidy, being estimated to occur in 1:18000–1:40000 male births. Phenotypically it was considered a variant of Klinefelter syndrome (47,XXY), but currently, due to mental deficiency and behavioural characteristics associated, it’s considered to be a separated genetic condition.Case report: We report a case of a 8-year-old boy, first child of a young non-consanguineous couple, born at term. Due...

Introduction: The spectrum of GH deficiency (GHD) in children ranges from complete deficiency, with severe growth retardation, to partial deficiency, with slightly short stature. The administration of GH to children with GHD improves linear growth, mainly during the first 2 years of treatment.Patients and methods: The study analyzes pattern of growth in 35 children (24 boys, 11 girls) with GHD, in the first year of treatment with hGH. There were three gr...

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Growth hormone (GH) deficient adults present with a wide spectrum of clinical presentations commonly called GHD syndrome. Detection of GHD is important especially as successful GH replacement therapy ameliorates many symptoms of the GHD syndrome and is accompanied by a significant improvement in quality of life (QoL) in GHD patients. GH therapy has been available for adults in the last twenty years and the results from large pharmaco-epidemiological follow ups under GH treatme...

Ghrelin is the brain-gut peptide with growth hormone (GH)- releasing and appetite-inducing activities. Reviewed experimental evidence confirms the role of endogenous ghrelin in regulating GH secretion while studies in humans still fail to pinpoint the exact role of ghrelin in GH secretion. Accumulating evidence supports that ghrelin/GH secretagogue receptor (GHS-R) axis contributes to the maintenance of body weight. Evidence suggest the role of environmental factors modulating...

Introduction: Cushing’s disease is the most frequent cause of hypercortisolism. Although the classical form is easy to diagnose, nonspecific features raise differential diagnosis problems. Severe forms are associated with high mortality, but subclinical hypercortisolism also has significant morbidity.Patients and methods: Retrospective study of Cushing’s disease evolution in 14 patients, diagnosed between 2000 and 2011 (11 women, 3 men, age at ...

Introduction: Subacute thyroiditis (SAT) is characterized by cervical pain. Rarely, other thyroid diseases, like Hashimoto’s thyroiditis (HT), may be associated with cervical pain, leading to confusions with SAT. We report a particular case of painful goitre.Case report: D Maria, 50 years old, presented with cervical pain, low grade fever, inflammatory syndrome (ESR=132 mm/1 h), and was diagnosed with SAT. Thyroid function was normal. Ultrasound (US...

Introduction: Lipid storage myopathy (LSM) is characterized by increased lipid droplets in muscle fibers. Primary carnitine deficiency is the most frequent cause of LSM, clinical presentation ranging from asymptomatic to progressive muscle weakness or cardiomyopathy, carnitine supplementation being effective with remission of symptoms.Case report: In february 2007 R.A. born in 1996 presented progressive muscle weakness with elevated muscular enzymes (LDH...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life – threatening condition. About 75–80% of cases of PAI are caused by autoimmune destruction, while TB accounts for 7–20% of cases; however, adrenal tuberculosis is still the primary cause of PAI in developing countries. Adrenal tuberculosis is difficult to diagnose because symptoms are non-specific. Moreover, if the patient had no prior contact with TB patients, no past history of pulmonary T...