hrp0092p2-265 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Hormonal Assessment of Malformation Syndromes Associated with Disorders of Sex Development: Case Series of 9 Patients

Mahfouz Shaymaa , Abdelmeguid Yasmine

Introduction: Disorder of sex development (DSD) is a challenging condition confronting the patients, their relatives and the clinicians. It is more challenging when this disorder is associated with other extra-genital malformations. This makes their overall management more complex than if they just had DSD. Moreover, some of them have disturbed testicular function.Aim of the work: this work aimed at clinical review of 9 ...

hrp0092p3-18 | Adrenals and HPA Axis | ESPE2019

The Unusual Adverse Side Effects of Super-Potent Topical Steroids

Abdelmeguid Yasmine , Mahfouz Shaymaa

Background: Topical steroids are commonly used in clinical practice for management of dermatological diseases. Clobetasol propionate is the most potent. They are systemically absorbed and may cause adverse side effects due to improper and prolonged use, such as iatrogenic Cushing's syndrome and adrenal insufficiency due to suppression of hypothalamic-pituitary-adrenal axis.Case presentation: A 7-month-old boy referre...

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...

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...

hrp0095p1-260 | Diabetes and Insulin | ESPE2022

The association between Epilepsy and Diabetes mellitus diagnosed before 2 years of age

Abdelmeguid Yasmine , Mowafy Ehsan , Marzouk Iman , Elsayed Shaymaa

Introduction: Epilepsy or seizures are often observed in patients with diabetes mellitus (DM). Different types of seizures occur in approximately 25% of patients with DM. The exact cause remains undetermined. Moreover, a possible association between T1DM and epilepsy exists. Risk factors for epilepsy in T1DM include younger age at onset, recurrent hypoglycemia or DKA, and poor glycemic control.Aim of the work: The aim of...

hrp0089p3-p069 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Ionized Calcium and 25-Hydroxyvitamin D3 in Children with Steroid-sensitive Nephrotic Syndrome

Abdelmeguid Yasmine Ashraf , Omar Omneya Magdy , Sharaki Ola Atef , Kersh Mahmoud Mohi El-Din El

Introduction: Nephrotic syndrome (NS) is one of the most frequent glomerular pathological conditions seen in children. The International Study of Kidney Disease in Childhood (ISKDC) reported that 84.5% of children with idiopathic nephrotic syndrome (INS) had minimal-change nephrotic syndrome (MCNS). Complications of INS may arise as a result of the disease itself or secondary to treatment. The chief complications of NS are infection, followed by thromboembolic events. Other di...

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...

hrp0095p1-441 | Diabetes and Insulin | ESPE2022

NEUROD1 mutation as a cause of neonatal diabetes: the rarest of the rare!

Abdelmeguid Yasmine , Elwan Samar , De Franco Elisa , Abd Elmaksoud Marwa , Khater Doaa

Background: NEUROD1 encoding neurogenic differentiation 1 is known to play an important role in the development of the pancreas and central nervous system. Heterozygous mutations have been rarely identified as a cause of maturity-onset diabetes of the young (MODY6). Biallelic NEUROD1 mutations have been reported to cause neonatal diabetes mellitus (NDM) as well. However, only 3 cases have been reported worldwide so far....