hrp0095p2-245 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

To give or not to give GnRH agonists in central precocious puberty due to pituitary microadenoma?

Abdelmeguid Yasmine , Elsayed Shaymaa , Raafat Shaymaa

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...

hrp0094p2-202 | Fat, metabolism and obesity | ESPE2021

The challenges faced in the management of Congenital Generalized Lipodystrophy.

Abdelmeguid Yasmine , Elashry Reham , Elsayed Shaymaa , Raafat Shaymaa ,

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...

hrp0094p2-127 | Diabetes and insulin | ESPE2021

Thiamine-responsive megaloblastic anemia: a rare presentation of an uncommon disease!

Abdelmeguid Yasmine , Elsayed Shaymaa , Raafat Shaymaa , Fawzy Dina , Mohi El-Din Mahmoud , Kersh El ,

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...

hrp0095p2-25 | Adrenals and HPA Axis | ESPE2022

Premature adrenarche: A common disease with a novel presentation

Raafat Shaymaa

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...

hrp0094p2-421 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Radiological evaluation of children with atypical genitalia due to disorders of sex development (46, XY DSD) in a resource-limited setup

Khater Doaa , Raafat Shaymaa

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...

hrp0094p2-445 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Could intramuscular testosterone differentiate between partial androgen insensitivity and 5 alpha reductase type 2 deficiency?

Raafat Shaymaa , Waheeb Saber

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...

hrp0089p2-p372 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Assessment of the Gonadotrophin–Gonadal Axis and Sertoli Cell Function in Partial Androgen Insensitivity Syndrome

Khater Doaa , Omar Magdy , Raafat Shaymaa

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...

hrp0094p2-384 | Pituitary, neuroendocrinology and puberty | ESPE2021

Basal LH as a screening test for diagnosis of central precocious puberty

Raafat Shaymaa , Abdelmeguid Yasmine , Fawzy Dina ,

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...

hrp0097p2-224 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Spectrum of phenotypic features variation in XY DSD patients with NR5A1 mutation: case series

Raafat Shaymaa , Abdalla Ebtesam , Waheeb Saber

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...

hrp0095rfc8.5 | Diabetes and Insulin | ESPE2022

Impact of type 1 diabetes on the epicardial fat thickness in children and adolescents

Raafat Shaymaa , Elashry Reham , Adel Hani , Wafa Ehsan

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...