Endocrine Abstracts

Introduction: Pregnancy in a patient with acromegaly is uncommon, as the enlarging pituitary adenoma suppresses gonadotropin secretion rendering the patient amenorrhoeic and infertile. About 40% of the women with pituitary adenomas also have hyperprolactinaemia, which further decreases the likelihood of pregnancy.Case report: A 32-year-old woman was sent to our centre in the first trimester of pregnancy with the diagnostic of gestational diabetes. Clinic...

Introduction: Congenital pituitary stalk interruption syndrome (PSIS) is a rare condition, characterized by the triad (not always complete): absence/hypoplasia of the pituitary stalk, hypoplasia/aplasia of the anterior pituitary and absence or ectopy of the posterior pituitary high signal intensity, on magnetic resonance imaging (MRI). PSIS implies a permanent GH deficiency, in 77% associated with other pituitary hormones deficiencies. The aetiology remains uncertain, but some...

Introduction: Type 1 diabetes mellitus (T1DM) and multiple sclerosis (MS) are organ-specific autoimmune diseases. Their association, first described in a study in Sardinia, left questions about their clustering, clarified by the Familial Autoimmune and Diabetes Study, which showed for the first time an highly increased prevalence of MS in adults with T1DM, reinforced by further epidemiological studies that also revealed increased risk of T1DM in MS patients.<p class="abste...

Introduction: The XXYY Syndromeis an extremely rare sex chromosomal disorder characterized by the presence of extra X and Y chromosomes, and clinically by tall stature, dysfunctional testes associated with infertility and hypogonadism, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.Case report: A 46-year-old man was referred to theFracture Osteoporosis OutpatientClini...

Introduction: Osteoporosis is a multifactorial disease characterized by reduced bone mass and increased risk of fragility fractures. Menopause predisposes women to osteoporosis due to declining estrogen levels. Iron is known to play a relevant role in the development of osteoporosis since iron suppresses osteoblast formation and may also stimulate osteoclast resorption of bone. Also, homocysteine is a known risk factor for osteoporotic fractures and is related to DNA methylati...

The European Working Group on Sarcopenia in Older People (EWGSOP2) defined in 2018 ‘sarcopenia as muscle disease (muscle failure), with low muscle strength overtaking the role of low muscle mass as a principal determinant’; sarcopenia increases risk of falls and fractures, impairs ability to perform activities of daily living, leads to mobility disorders and low quality of life and death. The diagnosis is confirmed by low muscle quantity or quality. The muscle quanti...

Objectives: To study the association of Beta-2 adrenergic receptor (ADRB2) gene polymorphism Arg16Gly with bone mineral density and metabolic parameters of bone remodelling.Materials and methods: BMD (g/cm2) was measured by DEXA in 105 post-menopausal women: 35 with normal BMD (age=58.30±1.33 years; BMI=28.18 [19.13-39.87] kg/m2) and 70 with osteoporosis (age=68.30±1.09 years; BMI=28.90 [20.78-43.86] kg/m2). Met...

Introduction: Hypercalcemia can be caused by a variety of pathologies/factors. Vitamin D plays a central role in calcium homeostasis, where a tight control of its metabolism is necessary. Inadequate 24-hydroxylase-enzime (CYP24A1) activity leads to failure of 25-hydroxyvitamin and 1,25-dihydroxy-vitamin D3 inactivation, resulting in hypercalcemia.Case report: An asymptomatic, 22-year-old woman was admitted in an Endocrinology appointment for evaluation o...

Objectives: To study the association of functional polymorphisms at DHFR, CBS and MTHFR genes with bone mineral density (BMD) and metabolic parameters of bone remodeling.Materials and methods: BMD (g/cm2) was measured by DEXA in 391 subjects: 174 with normal BMD (137F 37M; age=48.79±12.99 years; BMI=29.61±5.22 kg/m2), 62 with osteopenia (48F 14M; age=56.06±12.96 years; BMI=27.64±4.94 kg/m2) and 154 with osteoporosis (119F, 35M; age=64...

Introduction: Obesity is a pathological condition characterized by a low-grade systemic inflammatory state that predisposes to the onset of some diseases, such as hypertension, diabetes, and hyperlipidemia. Also, obesity can impact bone metabolism, but its effects are controversial.Aims: This observational study aimed to evaluate and correlate the bone mass with the lipidic profile, adipocytokines, glucose metabolism, hepatic function and purine metaboli...