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...

hrp0097p2-212 | Adrenals and HPA Axis | ESPE2023

A rare case of Aldosterone synthase deficiency presenting with Hypertension.

Abdelmeguid Yasmine , Khater Doaa

Introduction: Aldosterone synthase deficiency (ASD), also known as Corticosterone methyloxidase deficiency, is a rare autosomal recessive disorder characterized by severe hyperkalemia, salt loss, vomiting, severe dehydration and failure to thrive. It is caused by inactivating mutations of the CYP11B2 gene. We herein report the first confirmed Egyptian infant who had clinical and hormonal features of aldosterone synthase deficiency. Unexpectedly, our p...

hrp0097p1-422 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Stüve-Wiedemann syndrome: an extremely rare disorder causing recurrent fractures.

Abdelmeguid Yasmine , Abdul-Aziz Ahmed

Background: Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder, due to mutations in the leukemia inhibitory factor receptor (LIFR) gene. It is characterized by bowed-long bones, joint restrictions, dysautonomia, respiratory and feeding difficulties leading to death during infancy. In SWS survivors beyond 2 years of age, orthopedic problems are the main concern e.g. spinal deformations, osteoporosis and recurrent spontaneous fra...

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...

hrp0094p2-384 | 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...

hrp0097p1-185 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Atypical genitalia as a new presentation of ectodermal dysplasia: case report

Raafat Shaimaa , abdelmeguid yasmine , Waheeb saber

Background: Ectodermal dysplasia is considered as an inherited multi-systemic disorder affecting tissues derived from ectoderm (skin, hair, teeth, nails and sweat glands). There are many genes involved in genetic background of this disorder with variable modes of inheritance. The thrombospondin-type laminin G domain and epilepsy- associated repeats (TSPEAR) gene have been found in some patients with this disorder with interesting variable phenotypic spectrum. ...

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...

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...

hrp0097p1-221 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Celiac disease in a patient with Sclerosteosis: an association or just a co-incidence?

Abdelmeguid Yasmine , Riad Salma , Mokhtar Nada , Taha El-Hendawy Mahmoud

Sclerosteosis is a rare autosomal recessive disorder characterized by progressive skeletal overgrowth and increased bone density. Loss of function mutations of SOST gene, coding for sclerostin, are linked to sclerosteosis. Sclerostin plays a critical role inhibiting osteoblastic activity and preventing excessive bone formation by antagonizing the Wnt signaling pathway. Sclerosteosis patients are often tall and have excessive body weight due to high skeletal weight. To...