hrp0097t7 | Section | ESPE2023

Variants in the Neurodevelopmental Gene Bone Morphogenic Protein/Retinoic Acid Inducible Neural-Specific 2 (BRINP2) are Associated with Severe Delayed Puberty

Al-Sayed Yasmin , Howrad Sasha , Guasti Leonardo , Oleari Roberto

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP) due to GnRH deficiency, with a phenotypic spectrum from severe delayed puberty to partial or complete Hypogonadotropic Hypogonadism (HH). HH can also be present as a shared trait with other neurodevelopmental d...

hrp0098p3-142 | GH and IGFs | ESPE2024

Growth Hormone and Scoliosis; Cause or Coincidence?

Alzahrani Hajer , Alkhuzaei Hisham , Attia Najya , Al Mutair Angham

Introduction: Growth hormone therapy has been approved in the management of short stature secondary to various causes for many years. The safety of growth hormone therapy is questioned in different aspects, one of which is scoliosis development or progression.Cases: We are reporting two cases addressing the concerns of scoliosis and growth hormone (GH) therapy.First case: A 12 year...

hrp0098p3-203 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Pituitary hyperplasia secondary to primary hypothyroidism

M A Al Towati Mabrouka , Subbaryan Anbezhil , Shenoy Savitha

Background: Pituitary hyperplasia secondary to primary hypothyroidism has been reported in adult patients but is rare in paediatric patients. Despite advances in imaging technology, distinguishing between pituitary adenoma and pituitary hyperplasia remains a challenge. This differentiation is important as the primary modality of treatment in hyperplasia is thyroid hormone replacement and not neurosurgical intervention.Case report...

hrp0086p1-p916 | Thyroid P1 | ESPE2016

Papillary Thyroid Carcinoma in a Mother and Child Evolving after the Manifestation of Grave’s Disease

Al Badi Maryam , Lankes Erwin , Kuehnen Peter , Al Semani Aisha , Biebermann Heike , Krude Heiko , Schmid Kurt , Grueters Annette

Background: Familial PTC manifesting in childhood has been described only in single cases, mainly in the context of rare syndromes (APC-associated-syndrome, PTEN-hamartoma syndromes etc). PTC in Grave’s disease (GD) has been described in adults, but not in familial cases including young children.Objective and hypotheses: We investigated the association of large metastatic papillary carcinoma (PTC) in a 10 years old female and her mother evolving rap...

hrp0097rfc8.4 | Fat, metabolism and obesity 2 | ESPE2023

Understanding the genetics of early onset obesity in a cohort of children from Qatar

Mohammed Idris , Haris Basma , Al-Barazenji Tara , Vasudeva Dhanya , Tomei Sara , Al Azwani Iman , Dauleh Hajar , Shehzad Saira , Chirayath Shiga , Mohamadsalih Ghassan , Petrovski Goran , Khalifa Amel , love Donald , Al-Shafai Mashael , Hussain Khalid

Context: Monogenic obesity (MO) is a rare form of obesity due to pathogenic variants in genes implicated in the leptin-melanocortin signaling pathway and accounts for around 5% of severe early-onset obesity. Mutations in the MC4R and Leptin genes are the commonest causes of MO. Determining the genetic causes has important clinical benefits as novel therapeutic interventions were developed for some forms of MO.Objective:<...

hrp0095p1-494 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Postnatal growth pattern in (n=51) infants of non-diabetic mothers (INDM) who were born preterm or near term and had significant neonatal hypoglycemia

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

Prematurity is a risk factor for significant hypoglycemia even in infants born to non-diabetic mothers (INDM) which could lead to postnatal growth abnormalities. This study evaluated the growth pattern from birth until the age of 2 years of 51 INDM who were born preterm or near term and admitted with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4,6,12,18 and 2 years were measured in 51 INDM who admitted with neonatal hypoglycemia (Plasma value les...

hrp0095p2-127 | Fat, Metabolism and Obesity | ESPE2022

The effects of Long-term (five years) Prednisone Therapy in Frequently Relapsing Nephrotic Syndrome of Childhood: Impact on glycemia and the different components of the metabolic syndrome (MetS)

Hamed Noor , Soliman Ashraf , Alaaraj Nada , Ahmed Shayma , Alyafei Fawzia , Itani Maya , Al-Naimi Fatima , Al-Yousef Doaa , Shaat Mona , El Baba Mostafa

Although widely prescribed for their anti-inflammatory and immunosuppressive properties, glucocorticoids have various common metabolic side effects including hypertension, dysglycemia, and diabetes. Proposed risk factors for steroid-induced dysglycemia and metabolic syndrome include cumulative dose, longer duration of steroid course, and high body mass index.Aim: This study was carried out to investigate the prevalence of different metab...

hrp0095p2-130 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Postnatal Growth in Infants of Diabetic Mothers (IDM) (n = 79) Who Were Born at or Near Term and Had Severe Neonatal Hypoglycemia Without Other Comorbidities.

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

Abnormal postnatal patterns of linear growth and weight gain have been reported in infants born to mothers with gestational diabetes (IDM). We evaluated the growth pattern from birth to the age of 2 years of 79 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18, and 2 years were measured in 79 IDM who presented with significant neonatal hypoglycemia (Plasma value less than 20-25 mg/dL (1.1-1.4 mmol/L)) t...

hrp0095p2-136 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Growth patterns in Infants with Significant Neonatal Hypoglycemia during the first two years of age: Comparison of infants of Diabetic Mothers (IDM) vs infants of non-diabetic mothers (INDM)

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

We evaluated the anthropometric measures using WHO growth charts (z scores) from birth, 2,4,6,12,18 and 2 years for 79 IDM presented with significant neonatal hypoglycemia in comparison to 51 infants of INDM who had significant hypoglycemia due to transient hyperinsulinemia who required treatment for >2 days.Results: IDM had WAZ = -0.8 +/- 1.74, L AZ = -0.6 +/- 1.72 and WLZ = -0.96 +/- 1.9. They IDM were heavier and taller than the IN...

hrp0092p1-11 | Adrenals and HPA Axis | ESPE2019

Assessment of the Adrenal Function in Children with Acute Lymphoblastic Leukemia Before and After Induction Therapy with Corticosteroids

Dhawi Naji Walad , Khater Doaa , Al-Yaarubi Saif , Ullah Irfan Ullah , Wali Yasser

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer in children. Corticosteroids are the cornerstone in treatment of pediatric ALL. Steroids can cause several side effects including secondary adrenal insufficiency with disruption of cortisol response to stress causing morbidity and even mortality in those children.Objective: To assess the adrenal gland function of children with ALL before and after i...