Endocrine Abstracts

Introduction: There is scarcity of information regarding the profile of patients with Pheochromocytoma and paraganglioma from India.Aim: To study clinical profile of patients with Pheochromocytoma (PHEO)/Paraganglioma (PGL) attending the AIIMS hospital.Methodology:: Study protocol was approved by the AIIMS ethics committee. Written informed consent was taken from patients (parents in case of children). Patients of PHEO & PGL at...

Introduction: Late night salivary cortisol appears to be promising as a simple stress-free screening test for Cushing’s syndrome (CS). But there is no consensus on the cut-off value because of the lack of availability larger studies and of standardization of assays. The normal reference ranges are assay-dependent and should be validated for each laboratory.Objective: The purpose of this study was to evaluate the usefulness of late-night salivary cor...

Background: Pheochromocytoma (PHEO) and paraganglioma (PGL) are the tumors of adrenal medulla and extra adrenal ganglia respectively. Most of these PHEO/PGL are benign and may become malignant, if remain undiagnosed/untreated for a longer time. Vaginal PGL are extremely rare. There is not much published literature on vaginal PGL.Objective: To carry out biochemical and genetic analysis of the patient with MIBG negative malignant vaginal PGL.<p class="...

Introduction: 5 α-steroid reductase deficiency (5α SRD) is a rare autosomal recessive disorder.Aim: To identify mutations in the SRD5A2 gene in patients with 5α SRD.Methods: Patients registered in the endocrine clinic of our hospital and new patients with diagnosis of 5α RD were eligible to be included in this study. The study was approved by AIIMS ethics committee, written informed consent was obtained from pat...

Introduction: Primary amenorrhoea is defined as the absence of spontaneous menses by 16 years of age.There have been few, if any detailed reports of primary amenorrhoea from India.Aim: To assess the clinical profile and aetiology in patients presenting with primary amenorrhoea attending a tertiary care hospital in India.Materials and methods: A retrospective study was undertaken of patients presenting to a tertiary care institution...

Introduction: Gonadal dysgenesis (GD) is a congenital disorder which results in defective development of gonads. GD may be due to mutation(s) in any of the genes involved in gonadal development and differentiation. Here we present clinical and molecular profile (SRY and SOX9 gene) of patients with GD at our hospital.Methodology: Detailed clinical examination, karyotyping and molecular analysis of patients was done for SRY and SOX9 gene....

Background: Pheochromocytoma (PHEO) and paraganglioma (PGL) of abdominal origin secrete catecholamines which are metabolized to metanephrines. Head-and-neck paraganglioma (HNPGL) are considered as non secretary tumors.Objectives: To find the utility of plasma free metanephrine (MN), normetanephrine (NMN) and 3-methxytyramine (3-MT) for the differential diagnosis PHEO/PGL after excluding MEN2 and VHL patients.Methods: A total of 79 ...

Introduction: 5 alpha-steroid reductase deficiency (5α SRD) is a rare autosomal recessive disorder. Presented here is the clinical profile and long term outcomes of subjects with 5α SRD examined in our hospital during the last 30 yrs.Methods: Records of patients registered in the endocrine clinic of our hospital and new patients with diagnosis of 5α SRD were compiled. Details of history,physical examination,chromosomal analysis, hormonal s...

Introduction: Extra adrenal paraganglioma (PGL) account for approximately 15% of all pheochromocytoma. Urinary bladder & mediastinum are rarest form of PGL. We present a case of bladder &Mediastinal PGL with a novel mutation in exon 1 of SDHB gene.Case Report: 18 years old male patient was admitted with five years episodic symptoms of headache, sweating, and palpitations, especially after urination. He also complained of postural dizziness for la...