Endocrine Abstracts

Introduction: LH receptor plays an important role in sexual development and reproductive function. Mutations of this receptor lead to the development of three clinical conditions: Leydig cell hypoplasia, hypergonadotropic hypogonadism with primary amenorrhea and familial male limited precocious puberty. The first two entities result from inactivating mutations. In Leydig cell hypoplasia, with autosomal recessive inheritance, the phenotypic spectrum correlates with the degree o...

Background: Generously supported by IPSEN)-->Pituitary abscess is a rare but potentially fatal entity. It represents ~0.2–1% of all pituitary lesions. The symptoms are usually nonspecific. The proper interpretation of imaging studies is of extreme importance to the differential diagnoses.Case: Man, 40 years old, begins complaining of occipital headache (25.04.2011), initially with good response to treatmen...

Objective: To study the sleep quality in patients of a primary health care unit and Its relationship with anthropometric parameters as sex, age, BMI and waist circumference.Participants and methods: One hundred and twenty-two patients arrived spontaneously and correlatively for consultation. The Pittsburgh sleep quality index questionnaire (PQ5I) was used to investigate the patients sleep quality in the last month. The PQ5I explores seven aspects: C1) su...

Hypothyroidism (including subclinical hypothyroidism) occurs in about 2.5% of pregnancies. During pregnancy, maternal thyroid hormone requirements increase. It is known that the pregnant woman is the sole source of the fetal supply of thyroid hormones from conception to approximately 13 weeks of gestation when fetal thyroid function has developed. Organogenesis particularly of the nervous system is dependent on adequate thyroxine levels in fetal circulation. An elevated thyrot...

CaseMale, 44 y.o., with rigth maxillary tumor of progressive growth for 1 year with local and low back pain. Imaging exams: CT/MRI skull and face: right axial expansive lesion (62×52×46 mm), heterogeneous, multiloculated with bulging of the right orbit inferomedial wall, with a neoplastic aspect. CT pelvis: bone lesions with soft tissue densities in pelvis, heterogeneous L4, with height reduction. Biopsy of the lesion suggesting a brown tumor. ...

White adipose tissue acts as an endocrine organ that secretes a variety of adipokines and coordinates a number of biological processes such as energy homeostasis, neuroendocrine and immune functions. Recent studies demonstrated that abundant adipose tissue depots (particularly visceral adipose tissue), by producing inflammatory cytokines, contribute to chronic low-grade inflammation processes which may underlie the pathogenesis of metabolic disorders such as obesity, atheroscl...

Objective: The management of male idiopathic infertility is challenging. The Italian Medicines Agency (AIFA) note 74 regulates the empirical administration of follicle-stimulating hormone (FSH), although its application in clinical practice remain conflicting. The aim was to explore the management of male idiopathic infertility and to assess the actual use of FSH.Methods: A multicenter longitudinal prospective observational study (open-registry), involvi...

Background: Patients with congenital adrenal hyperplasia (CAH) due to classic 21-hydroxylase deficiency have poor health outcomes. We compared disease control in CAH adults treated with modified release hydrocortisone (MRHC, Chronocort®, Diurnal Ltd) versus standard glucocorticoid (GC).Methods: 6-month, Phase 3 study in 122 patients randomised to either MRHC twice daily or standard GC followed by safety extension study on MRHC. Patients had 24-hr 17...

Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include short stature and pubertal delay. The underlying mechanism of endocrinopathies in RASopathies has not been fully elucidated. We report four BRAF mutations (two of which are novel) in four children with congenital hypopituitarism and RASopathy features. To demonstrate the functional role of the variants we performed phosphoproteomic analyses...

Background: The therapeutic goal in CAH is androgen control on the lowest achievable glucocorticoid dose, preferably an adrenal replacement dose (15-25 mg hydrocortisone a day)1. However, the glucocorticoid dose required to control androgens frequently exceeds that required for adrenal replacement2. Modified-release hydrocortisone (MRHC) capsules, (Efmody, Diurnal Ltd, Cardiff, UK), replicate cortisol diurnal rhythm and improve CAH control compared to sta...