Endocrine Abstracts

A Multicystic dysplastic kidney (MCDK) is a congenital, renal, cystic transformation usually diagnosed perinatally with 1:1000-4,000 incidence1. The natural history of MCDK is disputed with involution1, enlargement and development of hypertension2, infection and malignant transformation reported in the literature. We describe the incidental detection of An occult MCDK was detected in a 25-year-old chef who presented with a 4 month history of di...

Aim: Estimation of the effectiveness of a single low dose 0.05 mg rhTSH in increasing radioiodine uptake (RAIU) before 131I therapy for multinodular toxic goiter with low initial RAIU.Patients: 24 patients (21 women, 3 men) with multinodular toxic goiter without prior antithyroid drug therapy. The initial 24 h RAIU was 21.1±8.44%; range, 6–39% and thyroid volume 64.14±22.49 ml; range, 24.8–109 ml.Meth...

This is a rare case of a previously healthy 21-year old Caucasian male (CM) diagnosed with a new onset of Kawasaki disease concomitant with diabetes mellitus and thyroiditis. He was admitted to ER with high fever (103.0F), generalized erythematous rash with desquamation of palms and soles, fissured lips, arthralgias, and malaise. Physical exam revealed anterior cervical lymph nodes enlargement on the right side. At the time of admission WBC=8300 cell/ml Eosinophil=6.2%, Hb/Hct...

Isochromosome Mosaic Turner Syndrome (IMTS) is a variant of Turner Syndrome (TS) characterized by cytogenetic profile of 1 or more additional cell lineages aside from 45,X, and the presence of a structurally abnormal X chromosome consisting of either two short or two long arms. IMTS is rare, with only 8–9% prevalence among women with TS based on international studies, and 15% of all TS in the Philippines. A 20 year old female came in due to amenorrhea and alopecia. Physic...

Introduction: There is some variation in the practice of gonadectomy for individuals with Differences of Sex Development (DSD) worldwide. This quality improvement project aims to undertake continued surveillance of the occurrence of gonadectomy in suspected or confirmed cases of DSD.Methods: Participating centres from the International-DSD Registry are sent a monthly email asking if a gonadectomy has been performed. A se...

Women’s bone metabolism is regulated by estrogens and interleukins. During the menopausal period the estrogens’ protective activity is decreased and the production of IL1β and IL6 is increased.The aim of the studyThe assessment of the dependency between IL1β i IL6 and estradiol values and BMD and IBM in postmenopausal women.Material: Forty-eight women, age 49–61, without menstruation ...

Introduction: Allograft inflammatory factor 1 (AIF-1) is a putative obesity gene which may influence the function of white adipose tissue (WAT).Objective: To study the role of AIF-1 in human WAT.Design and main outcome measures: mRNA expression and WAT secretion of AIF-1 was determined in subcutaneous and visceral WAT from non-obese subjects. Differentiated human adipocytes were treated with recombinant AIF-1 in vitro.<p...

Introduction: Acromegaly is associated with multiple comorbidities and excess mortality. However, disease burden is reduced by maintaining IGF-1 (and/or GH) levels under safe levels. First generation long-acting SMSa, administered at monthly intervals, represent the first line medical treatment. According to guidelines, its efficacy is evaluated through IGF-I measurements. However, there are no data indicating the optimal time for measuring IGF-I levels after the SMSa injectio...

Introduction: Bartter syndrome (BS) is a rare autosomal recessive disorder, with an estimated prevalence of 1 in 1.000.000. It is characterized by a primary defect in sodium chloride reabsorption in the medullary thick ascending limb of Henle’s loop. Severe hypokalemia, metabolic alkalosis, hyponatremia, hypochloremia, hyperaldosteronism, and increased urinary loss of sodium, potassium, and chloride can raise the suspicion of BS, but genetic testing is required for a defi...

Introduction: There is no unified approach in clinical practice regarding the medical management of congenital adrenal hyperplasia (CAH), despite existent international guidance. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of patients with CAH.Methods: We collected data recorded by 33 centres from 16 countries in the I-CAH Registry. We analysed patient visits between 1982 and 2018,...