Endocrine Abstracts

Introduction: 46XY gonadal dysgenesis is one of the important cause of DSD with varied clinical presentation Genetic mutations like SRY, NR5A1, SOX9, DHX37 are common mutations that can cause gonadal dysgenesis. Genetic testing for reaching final diagnosis in 46 XY DSD is increasingly playing a crucial role in the management plan.Case: A 10-month-old patient presented in our DSD clinic with complaint of atypical genitali...

Background: Precocious puberty is thought to occur in 1 in 5000–10 000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence. Objective: To find the frequency of precocious puberty in children and to compare the clinical and laboratory parameters of central and peripheral precocious puberty. M...

Background: C Treatment in all forms of CAH includes lifelong replacement of steroids. Steroids have an impact on bone health in multiple ways and are known to cause osteoporosis when given in high doses or for a longer duration. Objective: To evaluate bone mineral density (BMD), using dual-energy X-ray absorptiometry (DEXA) scan in children with CAH taking long-term steroids presenting in the pediatric endocrinology war...

Peripheral precocious puberty (PPP) in males is a rare condition characterized by the premature activation of the hypothalamic–pituitary–gonadal axis, resulting in the early onset of secondary sexual characteristics. We present the case of a one-year-old boy from Pakistan who exhibited PPP along with a left hip region mass.The patient’s initial workup revealed remarkably elevated levels of beta-human chorionic gonadotropin (Bhcg) and serum alphafetoprotein (AFP), indicating po...

Aim: Although thyroid nodules located in isthmus were less frequent, papillary thyroid cancer in this location was reported to be more aggressive in some studies. Our aim was to evaluate hormonal, ultrasonographic, and cytopathologic features of nodules located in isthmus (isthmic nodules).Material and methods: Data of patients who underwent thyroidectomy between 2006–2014 were reviewed retrospectively. Hormonal, ultrasonographic, and cytopathologic...

Background: Gestational diabetes mellitus is any degree of glucose intolerance with first diagnosis during pregnancy; it affects 3–10% of pregnancies. The presence of diabetes-related autoantibodies has shown to be able to predict the development of type 1 diabetes before hyperglycemia arises.Aim of work: To recognize the prevalence of islet cell antibodies among a sample of Egyptian females with gestational diabetes and its possible relation of dev...

Introduction: Increased visceral adiposity is usually associated with a clustering of atherogenic risk factors, such as insulin resistance, hypertension, dyslipidemia, alterations in coagulation and inflammatory cytokine profiles. Visceral adipose tissue derived serpin (Vaspin) is an adipokine with insulin sensitizing effect which is markedly elevated in high body mass index (BMI) people.Aim: To evaluate serum Vaspin level in relation to atherogenic risk...

Besides total body irradiation and immunosuppressive drugs, massive iodine supply and stress might participate in thyroid dysfunction, described in 50% of allo-HSCT. We report on a rare case of hypothyroidism related to blocking TRAb. A 55-year-old man was admitted for asthenia, dyspnea, myalgia, 8 kg-weight gain, constipation, dry skin, hoarse voice, recent deafness. He had moon face without any goiter. He had received, 1 year before, an unrelated 9/10 human leukocyte antigen...

Introduction: Autoimmune polyglandular syndrome (APS) is a rare disease, that is defined by the presence of two or more glandular insufficiencies caused by autoimmune mechanisms and that may be associated with other pathologies and immunological phenomena. It is characterized by the Presence of circulating organ specific antibodies and lymphocytic infiltration of the affected gland.Case report: A 38-year-old female known to have autoimmune polyglandular ...

Objective: Abnormal mitochondria are well known in oxyphilic thyroid tumors but recent data also confirm profound mitochondrial alterations in other thyroid carcinomas. These changes are linked to the aggressiveness of the tumors. Our group recently demonstrated in an in vivo model, that inhibition of phosphoinositide 3-kinase (PI3K) signalling suppressed the invasive and metastatic behaviour of thyroid cancer cells. Here, we evaluated whether a modulation of PI3K sig...