Endocrine Abstracts

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Background: In 1985, Mikati et al., described a new syndrome, which included microcephaly, hypergonadotropic hypogonadism, short stature, mental retardation and minor anomalies in four out of nine siblings of consanguineous parents. No genetic disorder was associated to the disease. No further references to this syndrome have been found in literature. The authors present a new possible case of Mikati-Naijjar and Sahli syndrome (MNJS).Clinical case: Forty...

Insulin delivery through oral route requires protein protection against gastric environment followed by intestinal absorption. Several approaches using colloidal carriers have been proposed to achieve such attempts. Examples are nanoparticles produced from lipid materials (mono, di and triacylglycerols, waxes, fatty acids), polymeric materials (poly acid lactic/glycolic co-polymers, poly-epsilon caprolactone) or from polysaccharides (hyaluronic acid, dextran sulphate, alginate...

Introduction: Klinefelter syndrome (KS) is the most common congenital abnormality causing primary hypogonadism. It occurs in about 1 in 660 live male births. The clinical manifestations include tall stature, small testes, gynecomastia and neurocognitive impairment. Nevertheless, the KS phenotype varies greatly, which might be one of the reasons why the syndrome is highly underdiagnosed. KS is associated with several clinical conditions and increased morbidity/mortality. Testos...

X-linked adrenoleukodystrophy (X-ALD) is a metabolic disorder caused by mutations in the ABCD1 gene leading to accumulation of very long-chain fatty acids (VLCFA) in plasma and all tissues, including the white matter of the brain, the spinal cord and adrenal cortex. There is an estimated incidence of 1 in 17.000 new-borns. The clinical features are variable ranging from primary adrenal insufficiency and progressive myelopathy to cerebral demyelination.Th...

Introduction: Anorchia or vanishing testis syndrome is defined as the absence of testicular tissue in genetic and phenotypic males. To establish this diagnosis certain criteria must be present, namely non palpable testis during examination under anaesthesia and blind ending spermatic vessels visualized within the retroperitoneu, or the spermatic vessels and vas deferens exiting a closed internal inguinal ring. Bilateral congenital anorchia affects one in 20 000 males.<p cl...

Introduction: Triple X syndrome is the most common female chromosomal abnormality, with an estimated incidence of 1/1000 female newborns. Most of the women are phenotypically normal, apart from being taller than average. Possible additional problems are psychiatric disorders, genitourinary malformations, EEG abnormalities, scoliosis and premature ovarian insufficiency.Case report: 46-year-old female, referred to the Endocrinology department due to second...

Introduction: Hyperosmolar hyperglycaemic state (HHS) and diabetic ketoacidosis (DKA) are the two most serious acute metabolic complication of diabetes mellitus (DM). The authors propose to characterise the admissions for HHS and DKA at a univeristy hospital.Methods: An observational, descriptive, and retrospective study in adults admitted to the hospital between January 2009 and October 2013 due to HHS and DKA. The information was accessed via the patie...

Introduction: Primary hyperaldosteronism (PA) is a disturbance caused by the autonomous production of aldosterone by the adrenal gland. The most frequent causes are due to bilateral supra-renal gland hyperplasia and aldesterone producing adenoma. It is most frequent amongst women aged between 30 and 50 years of age. It is clinically characterised by hypertension (HTN), resistant to therapy. Hypokalaemia, which is known as a ‘classical marker’ is found in less than a ...