ESPE Abstracts

Background: Functioning gonadotroph adenomas (FGAs) are very rare gonadotropin-secreting pituitary adenomas. Clinically, FGAs present only with mass effects. Nevertheless, central precocious puberty (CPP) has also been reported. Published data have demonstrated controversial opinions on the use of GnRH agonists in these patients, considering the risk of increase in tumor size and stimulating gonadotropin secretion. We herein report 3 cases diagnosed with CPP d...

Background: Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease. The prevalence has been reported to be 1 in 10million with around 500 cases worldwide. The absence of functional adipocytes results in storage of lipids in other tissues, including muscle & liver. The diagnosis of CGL is based on clinical data; however, there is phenotypic heterogeneity. Metreleptin injections cause decreased appetite & is beneficial in loweri...

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by a triad of megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus (DM). It is due to an inherited mutation in SLC19A2 gene, encoding a high-affinity thiamine transporter 1 in charge of facilitating the uptake of thiamine by the cells. Other manifestations including optic atrophy and stroke are rarely reported. We herein report an extremely rare...

Introduction: Premature adrenarche refers to appearance of pubic hair and sometimes axillary hair before eight and nine years in girls and boys respectively. The most constant sign is the appearance of pubic/axillary hair. Furthermore, other signs of androgen effect (adult type body odor, acne, greasy hair, accelerated statural growth) are valuable to complete the diagnosis. However, it is important to be mentioned that no virilization signs are associated wit...

Background: Disorders of sex development (DSD) comprises a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo. Imaging is a very useful tool in assessing the patient’s phenotypic sex through identifying the internal genital anatomy and the adrenal glands. Ultrasonography is a cheap and readily available tool. MRI has disadvantage of being expensive with long waiting lists especially in developin...

Introduction: Disorders of sex development are challenging conditions for patients, parents and the interdisciplinary health care team. Sex assignment of these patients needs optimal hormonal profile and molecular diagnosis. This study aimed at finding a new tool for differentiation between partial androgen insensitivity and 5 alpha reductase deficiency especially when the molecular diagnosis is unavailable or highly expensive if available.Methods and Su...

Androgen insensitivity syndrome (AIS) is the largest single entity that leads to male under-masculinization. Although adequate serum concentrations of testosterone exclude a defect in testosterone biosynthesis, a low testosterone value at baseline does not always exclude PAIS. Anti-Müllerian hormone (AMH), also called Müllerian inhibiting substance or factor, is secreted in high amounts by the immature Sertoli cell; it is negatively regulated by testosterone.<p c...

Introduction: Central precocious puberty (CPP) refers to the development of secondary sex characteristics before ages 8 and 9 years in girls and boys, respectively. It is either due to organic brain lesion or idiopathic. Conventionally, Gonadotropin Releasing Hormone (GnRH) stimulation test is a mainstay tool for diagnosis of central precocious puberty in pediatrics. However, it is time consuming and expensive. Therefore, this study was aiming to find an alter...

Background: Disorder of sex development (DSD) includes a wide spectrum of clinical disorders affecting gonadal and genital development. Many causative gene mutations are involved in these disorders. One of these genes is nuclear receptor subfamily 5 group A member 1 (NR5A1) encoding Steroidogenic factor-1 (SF-1) located on chr 9q33.3. This gene is expressed in many tissues such as Sertoli cell and Leydig cell in testes, ovaries, placenta, adrenal cortex, hypot...

Introduction: Diabetes mellitus has been shown to be a major risk factor for development of early adult onset cardiovascular disease (CVD). Therefore, early detection and management of CVD became a major concern for health care providers. Epicardial fat thickness (EFT) is considered a new marker of visceral adiposity. The increased epicardial adiposity does not only increase the cardiovascular risk but also is considered an established risk factor for appearan...