Endocrine Abstracts

Introduction: The normal development of the female reproductive tract depends on the interaction between genetic, hormonal and environmental factors for the differentiation of the Müller Wolff ducts, and the urogenital sinusCase report: 16-year-old female, single, school student presented to our endocrine department complaining of delayed puberty. The patient was delivered by normal vaginal delivery, no history of anosmia or hearing defects There is...

Introduction: Allgrove syndrome is a rare autosomal recessive disorder characterized by a Lacrima, achalasia, adrenal Insufficiency and Neurologic disorders. Mutation in (AAAS) gene on chromosome 12q13, has been implicated.Case report: Eighteen-year-old male referred to the Endocrinology clinic for evaluation of suspected adrenal insufficiency. The patient reported generalized weakness, fatigue, anorexia recurrent fainting attacks, and progressive hyperp...

Introduction: Thiamine responsive megaloblastic anemia syndrome(TRMA), is an autosomal recessive disorder due to mutation of gene (SLC19A2) encoding thiamine transporter protein TRMA ischaracterized by a triad of anemia, diabetes mellitus, and sensorineural deafness.Case report: A 15 year old girl admitted to the ERwith diabetic ketoacidosis. She was diagnosed as neonatal diabetesat the age of 16 months and wasput on insulin therapy. Her parents arehealt...

Introduction: Androgen insensitivity syndrome (AIS), also known as testicular feminization, encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. where there is resistance to androgen actions influencing both the morphogenesis and differentiation of androgen responsive body structures AIS is an X-linked recessive disorder. This disorder includes a spectrum of changes ranging from male infertility to completely nor...

Introduction: Kallmann syndrome, a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons It can be autosomal dominant, autosomal recessive, or X-linked inheritance.Case report: A 16-year-old male student, presented to endocrinology unit with delayed puberty. He was born to consanguineous parents and ha...

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 ...

Introduction: Fahr’s disease, is a rare neurological disorder characterized by abnormal calcified deposits in the basal ganglia with a prevalence of <1/1 000 000Case report: A 15-year-old male presented with focal seizures in right upper and lower limbs that progressed to generalized tonic clonic seizure and status epilepticus. No history of head trauma, central nervous system infection, stroke, hypertension, diabetes, or autoimmune disease No f...

Introduction: Thyroid storm is a rare complication of hyperthyroidism. In pregnant patients can cause spontaneous abortions, fetal demise. Aggressive treatment is needed.Case report: 26 years female 20 weeks pregnant; Graves’ disease for five years, was on carbimazole but she discontinued since she became pregnant Shortly after that, she started to complain with progressive dyspnea at less than ordinary effort, bilateral lower limb swelling, increas...

Introduction: Severe HTG usually occurs in a patient with genetic predisposition encoding various apolipoproteins (APOE, APOA5, APOC2, APOB), lipoprotein lipase (LPL), exacerbated by secondary factors as diabetes, obesity, high alcohol intake Case report: 35 yr old diabetic male presented with repeated vomiting with severe epigastric pain He had similar attack 1 year ago diagnosed as acute pancreatitis. 3 years ago he was diagnosed SLE with antiphospholi...