hrp0089wg5.4 | ESPE Paediatric and Adolescent Gynaecology Working Group (PAG) | ESPE2018

Endocrine-Metabolic Outcome of Women with a History of Sexual Precocity

de Vries Liat

Central precocious puberty (CPP) may have endocrine and metabolic implications in adulthood. Long-term effects may be associated with the underlying neuroendocrine dysfunction leading to CPP, the GnRH analogue (GnRHa) therapy, or both. Data are conflicting on the long-term risk of polycystic ovarian syndrome in both treated and untreated women. Clinical hyperandrogenism has been more frequently reported in CPP women than in controls, with no significant difference between GnRH...

hrp0082wg2.6 | Global paediatric Endocrinology and Diabetes | ESPE2014

Early Implementation of Insulin Pump Therapy after Diabetes Onset: is There Added Benefit?

de Vries Liat

Patients with type 1 diabetes (T1D) and their caregivers continue to face the challenge of maintaining blood glucose levels in the near-normal range, preventing sustained hyperglycemia associated with long-term microvascular and macrovascular complications, and avoiding recurrent episodes of hypoglycemia, especially at young ages when they can adversely affect cognitive function. In a follow-up to the Diabetes Control and Complications Trial, the Epidemiology of Diabetes Inter...

hrp0092p1-291 | Thyroid (1) | ESPE2019

An Incidental Finding of Thyroid Hormone Resistance Due to a De Novo Mutation in the THRB Gene

Averbuch Noa Shefer , França Monica , Lazar Liora , Tenenbaum Ariel , Phillip Moshe , de Vries Liat

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

hrp0084p2-435 | Gonads | ESPE2015

Clinical Criteria Remain Paramount for the Diagnosis of Polycystic Ovary Syndrome in the Adolescent Age Group

de Vries Liat , Weinberg Adi , Phillip Moshe

Background: Adolescent polycystic ovary syndrome (PCOS) may be difficult to distinguish from pubertal changes and diagnosis remains a challenge.Objective and hypotheses: To investigate the value of different biochemical parameters for the diagnosis of PCOS and also to assess the prevalence of non-classical congenital adrenal hyperplasia (NCCAH) among adolescent girls referred for clinical symptoms suggesting PCOS.Method: Retrospect...

hrp0082p2-d1-266 | Adrenals & HP Axis | ESPE2014

Is Basal 17-Hydroxyprogesterone a Sensitive Marker for Diagnosis of Non-Classical Congenital Adrenal Hyperplasia?

Bello Rachel , Lebenthal Yael , Phillip Moshe , de Vries Liat

Background: A basal 17-hydroxyprogesterone (17-OHP) plasma level of 6.0 nmol/l was suggested as a threshold for the diagnosis of non-classical congenital adrenal hyperplasia (NCCAH), particularly in children presenting with precocious pubarche (PP).Objective: The present study aimed to determine if this threshold could lead to underdiagnosis of NCCAH.Method: In a retrospective study the cohort of pediatric patients (n=145,...

hrp0092p1-187 | Diabetes and Insulin (1) | ESPE2019

Course of Puberty and Growth Spurt in Boys with Type 1 Diabetes

Shpitzer Hana , Lazar Liora , Shalitin Shlomit , Phillip Moshe , de Vries Liat

Background: Data on the course of puberty and pubertal growth in boys with Type 1 diabetes (T1D) are sparse.Objectives: To study the course of puberty, pubertal growth and final height in boys with T1D as well as possible factors affecting these.Methods: In this retrospective longitudinal study, 68 boys diagnosed with T1D between 1996-2009 who were pre-pubertal at diagnosis and had...

hrp0089p1-p002 | Adrenals and HPA Axis P1 | ESPE2018

Obesity and Cardio-metabolic Risk Factors among Children and Adolescents with Non-Classic 21-Hydroxylase Deficiency

de Vries Liat , Lebenthal Yael , Phillip Moshe , Tenenbaum Ariel , Bello Rachel

Background: Increased risk of obesity and cardio-metabolic risk factors were reported in patients with classical congenital adrenal hyperplasia but little is known about adiposity among patients with non-classical congenital adrenal hyperplasia (NCCAH).Aim: To assess the prevalence of overweight, obesity and cardio-metabolic risk factors among NCCAH patients. Methods: A cross-sectional retrospective study of 114 NCCAH patients (93 ...

hrp0086p1-p9 | Adrenal P1 | ESPE2016

Long-term Anthropometric Outcome of Girls with Non-classical Congenital Adrenal Hyperplasia Diagnosed in Childhood

Bello Rachel , Lebenthal Yael , Salitin Shlomit , Lazar Liora , Tenenbaum Ariel , Phillip Moshe , de Vries Liat

Background: Data on anthropometric outcomes in patients with non-classical 21-hydroxylase deficiency (NCCAH) are sparse.Objective: To investigate long-term effects of NCCAH on height and weight.Method: A retrospective, cross-sectional study of 105 girls with NCCAH aged 8.4±4.1 years (0.4–18), mean follow-up 11.4±7.5 years. Outcome measures were height, weight and BMI, expressed as standard deviation score (SDS), at d...

hrp0089rfc9.2 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Novel Variant in GNRHR Gene Regulatory Region in a Pedigree with Maternally Inherited Precocious Puberty

Stefanija Magdalena Avbelj , Kovač Jernej , Yablonski Galia , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: Gonadotropin-releasing hormone (GNRH) and its receptor (GNRHR) are central regulators of puberty. Loss-of-function mutations of the GNRH-GNRHR signaling pathway are associated with congenital hypogonadotropic hypogonadism, but no mutations were reported so far in patients with central precocious puberty (CPP). Animal data demonstrate the importance of microRNAs in pubertal timing regulation. Among others, miR200b regulates Gnrh1 gene expression in GnRH neu...