hrp0095t2 | Section | ESPE2022

Conditional PTEN knockout in mouse osteoprogenitor cells impacts bone structure and turnover

Lorenz Judith , Kirstein Anna , Nebe Michѐle , Richter Sandy , LeDuc Diana , Kiess Wieland , Klöting-Blüher Nora , Baschant Ulrike , Garten Antje

Background: Bone development and remodeling are controlled by the phosphoinositid-3-kinase (PI3K) signaling pathway. We investigated the effects of downregulation of phosphatase and tensin homolog (Pten), a negative regulator of PI3K signaling, in osteoprogenitor cells.Methods: Femura, tibiae and bone marrow stromal cells (BMSCs) from mice with Cre-inducible Pten knockdown in cells expressing the transcription factor Ost...

hrp0095p1-23 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Comparison of adult height prediction models against the average height of the Mexican population.

Gabriela Chávez-Vázquez Ana , Klünder-Klünder Miguel , Guadalupe Garibay-Nieto Nayely , López-González Desirée , Liliana Miranda-Lora América

Background: Adult height prediction models (AHP) were designed several decades ago based on the Caucasian population, hence they are not adapted to our population’s characteristics and secular changes. Technological advances have improved the accuracy of bone age (BA) reading through automated analysis, which has been incorporated into new AHP models, but have not been evaluated in the Mexican population.Objective:...

hrp0092p1-15 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

The Overweight and Obesity Decrease the Growth Potential in Mexican Children and Adolescents

Miranda-Lora América Liliana , Espinosa-Espíndola Montserrat , López-González Desireé , Loyo Mariana-Sánchez-Curiel , Dies Pilar , Klünder-Klünder Miguel

Background: The bone age (BA) assess the skeletal maturity and determine the children linear growth. Mexican children have a slightly delay in skeletal maturity before 10 years, but they reach in mean a BA 1 year in advance at the end of the puberty. On the other hand, Mexico has a high prevalence of childhood obesity and the adiposity has been associated with the BA advance in other populations. For the above, the overweight and obesity could be impact in the...

hrp0097p1-56 | Fat, Metabolism and Obesity | ESPE2023

Lipoma slice cultures as a new model to examine the effects of PI3K inhibitors on lipid accumulation

Maria Merz Lea , Kallendrusch Sonja , Winter Karsten , Klöting Nora , Krause Kerstin , Le Duc Diana , Kiess Wieland , Garten Antje

Introduction: PTEN hamartoma tumor syndrome (PHTS) is a rare genetic disorder caused by germline mutations in the tumor suppressor gene Phosphatase and tensin homologue (PTEN), a negative regulator of the phosphoinositide-3 kinase (PI3K)/AKT/ mechanistic target of rapamycin (mTOR) pathway. Children with PHTS frequently develop adipose tissue overgrowth, so called lipomas that can lead to loss of organ function due to displacing lipoma growth. Currently, except...

hrp0098rfc11.6 | Fat, Metabolism and Obesity 2 | ESPE2024

Pten knockout in osteoprogenitor cells leads to loss of adipose tissue

Kolbig Florentien , Lorenz Judith , Roth Lisa , Lindhorst Andreas , Thor Doreen , Le Duc Diana , Gericke Martin , Kiess Wieland , Klöting Nora , Krause Kerstin , Garten Antje

Background and aim: Pediatric patients with germline mutations in phosphatase and tensin homolog (Pten) frequently develop aberrant adipose tissue growth/lipomas. In severe cases this can have adverse effects on organ function and quality of life. Due to the lack of understanding the basis of lipoma development, no systemic treatment options are available. We therefore aimed to characterize an already described lipoma bearing mouse model with conditio...

hrp0095fc4.5 | Fat, Metabolism and Obesity | ESPE2022

Pten knockout in osteoprogenitor cells leads to loss of adipose tissue

Kolbig Florentien , Lorenz Judith , Roth Lisa , Lindhorst Andreas , Thor Doreen , Le Duc Diana , Gericke Martin , Kiess Wieland , Klöting Nora , Krause Kerstin , Garten Antje

Background and Aim: Pediatric patients with germline mutations in the phosphatase and tensin homolog (Pten) gene frequently develop aberrant adipose tissue growth called lipomas. In severe cases, recurrent lipoma formation can have adverse effects on organ function and quality of life. Due to the lack of understanding the basis of lipoma development, no systemic treatment options are available. We therefore aimed to characterize an already described lipoma bea...

hrp0092p1-42 | Fat, Metabolism and Obesity | ESPE2019

De-novo and Depot-Specific Androgen Production in Human Adipose Tissue - a Source of Hyperandrogenism in Obese Females

Wagner Isabel Viola , Sahlin Lena , Kulle Alexandra , Klöting Nora , Döbeln Viola , Savchuk Iuliia , Dötsch Jörg , Söder Olle

Background: Obesity in females is often associated with metabolic complications and hyperandrogenism but the role of adipose tissue (AT) in androgen synthesis remains unclear.Aims/Objectives: Employing human subcutaneous and visceral AT and cultured adipocytes, we studied whether AT could be a source of androgens promoting hyperandrogenism in lean and especially in obese females.Methods</st...

hrp0095fc6.6 | Sex Development and Gonads | ESPE2022

Breast ultrasonography: How useful in the diagnosis of precocious puberty?

Helvacıoğlu Didem , Bıyıklı Erhan , Buğdaycı Onur , Turan Serap Demircioğlu , Güran Tülay , Bereket Abdullah

Context: Assessment of breast development by physical examination(PE) can be difficult especially in overweight girls and in early stages. We aimed to study ultrasonography(USG) on evaluation of breast tissue in girls with breast development< 8 years of age.Patients and Methods: In this prospective study, 125 girls (age 7.1&pm;1.5 years) with early breast development were evaluated by breast USG for ultrasonographic b...

hrp0097fc4.5 | Growth and syndromes (to include Turner syndrome) | ESPE2023

From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary: The phenotypic spectrum of SALL4

Kodytková Aneta , Anne Amaratunga Shenali , Zemková Daniela , Maratová Klára , Dušátková Petra , Plachý Lukáš , Průhová Štěpánka , Koloušková Stanislava , Lebl Jan

Introduction: In 1950s - 1960s, the thalidomide disaster resulted in congenital malformations in more than 10,000 children. Derivative of thalidomide interferes with early embryonic transcriptional regulation due to selective degradation of SALL4 protein and thus, thalidomide embryopathy phenocopies pathogenic variants of the SALL4 gene. Their phenotypes range from phocomelia, reduced radial ray, to defects of the heart, kidneys, eye, and cerebral mid...