hrp0098p3-235 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Comparative Analysis of Clinical Presentation and Hormonal Profiles in Egyptian Pediatric Patients with 11-Beta-Hydroxylase and 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia

Diab Dina , Alaa El-Din Thabet Mohammed , Mohamed Marzouq Iman , Elneely Dalia , Tawfeek Soliman Ashraf , Elawwa Ahmed , Elsayed Shaymaa

Introduction: Congenital Adrenal Hyperplasia (CAH) encompasses a spectrum of genetic disorders resulting from enzyme deficiencies that impair adrenal steroidogenesis. The most common forms are due to 21-hydroxylase and 11-beta-hydroxylase deficiencies, each presenting with distinct clinical and hormonal profiles.Aim: This study aims to compare the clinical presentations and laboratory findings in Egyptian pediatric patie...

hrp0098p3-236 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Comparative Analysis of Growth and Hormonal Parameters in Pediatric Patients with 11-Beta-Hydroxylase Deficiency (11OHD) vs. 21-Hydroxylase Deficiency (21OHD)

Diab Dina , Alaa El-Din Thabet Mohammed , Marzouq Iman , Elneely Dalia , Tawfeeq Soliman Ashraf , Elawwa Ahmed , Elsayed Shymaa

Background: Congenital Adrenal Hyperplasia (CAH) is characterized by various enzyme deficiencies, notably 11-Beta-Hydroxylase Deficiency (11OHD) and 21-Hydroxylase Deficiency (21OHD), each affecting growth and hormonal levels differently. This study aim ed to compare the anthropometric and hormonal profiles of pediatric patients affected by these two conditions.Methods: The clinical records of pediatric patients diagnose...

hrp0082p3-d3-914 | Pituitary (1) | ESPE2014

The Influence of Specimen pH on Urinary LH and FSH by Immunochemiluminometric Assays

Ma Ya-Ping , Xu Zhuang-Jian , Hu Yu , Zhu Wen-Ying , Wang Qing

Background: It remains unclear whether specimen pH can influence urinary LH and FSH assayed by immunochemiluminometric assays (ICMA).Objective and hypotheses: To investigate the effect of specimen pH on urinary LH and FSH assayed by ICMA.Method: The first morning-voided urine were collected and divided into 11 samples (each 100 ml). The urine pH was determined with a pH meter. Hydrochloric acid and sodium hydroxide were added to al...

hrp0094p2-160 | Diabetes and insulin | ESPE2021

HbA1C stability – is posting samples reliable?

Davey Nicola , Wright Katherine , Natarajan Anuja ,

For the safe delivery of Paediatric Diabetes services at DBTH during the COVID pandemic a postal HbA1c service with patients collecting capillary blood samples to send to the laboratory for analysis was proposed. The aim of this pilot study was to assess stability of HbA1c at ambient temperature in capillary whole blood samples collected into Sarstedt Microvette EDTA tubes. Samples were analysed on the day of collection on the TOSOH G11 analyser and then re-assayed daily for u...

hrp0084p2-522 | Puberty | ESPE2015

Effect of Specimen Repeated Freeze-Thaw Cycles on Urinary Gonadotropin Determined by Immunochemiluminometric Assays

Ma Yaping , Xu Zhuangjian , Hu Yu , Zhu Wenying , Wang Qing

Background: It remains unclear whether specimen repeated freeze-thaw cycles can influence urinary lutenising hormone (LH) and follicular stimulating hormone (FSH) assayed by immunochemiluminometric assays (ICMA).Objective and hypotheses: To investigate the effect of specimen repeated freeze-thaw cycles on urinary LH and FSH determined by ICMA.Method: The first morning-voided urine was collected and divided two parts. One part was s...

hrp0097p1-477 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Newborn screening for Congenital adrenal hyperplasia in Pakistan; Pioneering the way forward

Memon Fozia , Ahmed Sibtain , Arif Muzna , Haider Maryam , Kirmani Salman , Nuzhat Humayun Khadija

Objective: This study aims to evaluate the effectiveness and efficiency of weight-based threshold levels for 17-hydroxyprogesterone (17-OHP) in screening newborns for 21 hydroxylases deficiency-congenital adrenal hyperplasia (CAH)Design: In April 2021 CAH screening was incorporated into the ongoing newborn screening program at aga khan university Hospital Karachi Pakistan,17OHp was assayed through Spectro fluorometry of ...

hrp0089rfc8.2 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

High Mobility Group Box 1 (HMGB1) is Increased in Adolescents with Polycystic Ovarian Syndrome (PCOS) and Decreases after Treatment with Myo-Inositol in Combination with α-Lipoic Acid (MYO+ALA)

Cirillo Francesca , Catellani Cecilia , Tridenti Gabriele , Vezzani Cristina , Lazzeroni Pietro , Sartori Chiara , Fulghesu Anna Maria , Losi Simona , Coradazzi Letizia , Amarri Sergio , Street Maria Elisabeth

PCOS treatment in adolescence should aim at improving ovarian function, based on the pathophysiology of this condition. We previously described in cystic fibrosis and then in the PCOS an increase in HMGB1, secondary to reduced cystic fibrosis transmembrane conductance regulator (CFTR) expression in the ovary, associated with insulin resistance and inflammation that both characterize PCOS. Inositols and ALA derivatives are considered a good therapeutic option for their possible...

hrp0095fc3.4 | Early Life and Multisystem Endocrinology | ESPE2022

A common polymorphism in the human P450 reductase gene (POR) causes defective steroid and drug metabolism due to protein instability

Rojas Velazquez Maria Natalia , Noebauer Mathias , Pandey Amit V

Cytochrome P450 oxidoreductase (POR) is the obligatory redox partner of steroid and drug-metabolizing cytochrome P450s located in the endoplasmic reticulum. Mutations in POR cause a broad range of disorders like congenital adrenal hyperplasia that may resemble bone malformations resembling Antley-Bixler syndrome. Genome sequencing studies have revealed the existence of a POR missense variant P228. We aimed to determine the detailed functional impact of POR variant P228L for it...

hrp0095p1-241 | Diabetes and Insulin | ESPE2022

3 Screen ICA TM Elisa - A New Tool for Identify Pre-Clinical Diabetes in First-Degree Relatives of Patients with Type 1 Diabetes (Pre-D1Abetes Study)

Noiszewska Klaudyna , Bossowski Artur , Zasim Aneta , Jamiołkowska-Sztabkowska Milena , Polkowska Agnieszka , Mazur Artur , Brzuszek Marta , Fichna Piotr , Niechciał Elżbieta , Szalecki Mieczysław , Wysocka-Mincewicz Marta , Myśliwiec Małgorzata , Żalińska Magdalena , Szmigierko-Kawko Małgorzata , Noczyńska Anna , Zubkiewicz-Kucharska Agnieszka , Chobot Agata , Górska-Flak Karolina , Ochab Agnieszka , Szadkowska Agnieszka , Wyka Krystyna , Pietrzak Iwona , Pilecki Olgierd , Jarosz-Chobot Przemysława , Rusak Ewa , Beń-Skowronek Iwona , Sieniawska Joanna , Szypowska Agnieszka , Nazim Joanna , Walczak Mieczysław , Jóźwa Anita , Marcinkiewicz Katarzyna , Powell Michael , Amoroso Marie , Rees Smith Bernard , Furmaniak Jadwiga

Background and Aims: A pre-clinical stage of type 1 diabetes (T1D) often precedes by many years the overt clinical symptoms. Diagnosis during this period is often difficult and is based on the presence of specific islet autoantibodies in the subject's blood. First-degree relatives of patients with T1D were tested using the 3 Screen ICA TM ELISA (RSR Ltd) for combined testing for autoantibodies to GAD65 (glutamic acid decarboxylase, 65kDa isoform), ZnT8 (z...

hrp0082p1-d1-176 | Perinatal and Neonatal Endocrinology | ESPE2014

A Novel Mutation of the PCSK1 Gene with Surprising Enzymatic Consequences Causes Proprotein Convertase 1/3 Deficiency and Consequent Endocrinopaties

Abu-Libdeh Abdulsalam , Wilschanski Michael , Abbasi Montaser , Blanco Elias , Lindberg Iris , Yourshaw Michael , Berger Itai , Martin Martin , Elpeleg Orly , Zangen David

Background: Congenital diarrheal disorders (CDDs) are a large group of life-threatening genetic disorders that are frequently difficult to diagnose. We report four siblings from consanguineous kindred with persistent generalized malabsorptive diarrhea hypothyroidism, GH deficiency, intermittent diabetes insipidus, and monogenic obesity.Objective and hypotheses: To find the genetic etiology for the CDD in four cases from consanguineous family using homozy...