hrp0084p1-156 | Miscelleaneous | ESPE2015

Cushing Syndrome due to Adrenocortical Carcinoma in a 3-month-old Infant with a Large Interstitial Deletion of Chromosome 5q Including the APC Gene

Akkurt Halit Ilker , Schulz Esther , Reinshagen Konrad , Vater Inga , Caliebe Almuth , Johannsen Jessika

Background: Childhood adrenocortical tumours (ACT) are rare and have well been described as part of familial cancer susceptibility syndromes which are caused by single gene mutations including P53, MEN1, PRKAR1A, CTNNB1 and APC. Adenomas are the most common ACT, but adrenocortical carcinomas (ACC) occur as well. Childhood ACC can be part of the Li-Fraumeni Syndrome and Beckwith-Wiedemann syndrome. ACC can also occur in familial adenomatous polyposis coli (FAP). FAP is a colon ...

hrp0095rfc6.2 | Sex Development and Gonads | ESPE2022

Dynamic changes of reproductive hormones in male minipuberty: Temporal dissociation of Leydig- and Sertoli-cell activity

S. Busch Alexander , Lindhardt Ljubicic Marie , N Upners Emmie , Bistrup Fischer Margit , Lau Raket Lars , Frederiksen Hanne , Albrethsen Jakob , Holm Johannsen Trine , P Hagen Casper , Juul Anders

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations of reproductive hormones. This period, termed minipuberty, promotes masculinization, including testicular, and penile growth, as well as further testicular descent in males. It appears to be essential for priming specific cell types, i.e. Sertoli-, Leydig-, and germ cells, including subsequent growth and maturat...

hrp0089p1-p223 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Sex-Differences in Reproductive Hormones During Mini-Puberty in Infants with Normal and Disordered Sex Development

Johannsen Trine Holm , Main Katharina M , Ljubicic Marie Lindhardt , Jensen Tina Kold , Andersen Helle Raun , Andersen Marianne Skovsager , Petersen Jorgen Holm , Andersson Anna-Maria , Juul Anders

Context: The early activation of the hypothalamic-pituitary-gonadal axis during infancy can be used in the evaluation of infants suspected of disorders of sex development (DSD). However, few data exists on sex-specific reference ranges for these hormones during early life.Objective: To evaluate sex-differences in reproductive hormone concentrations in serum from healthy infants in order to define sex-specific cut-off values and to apply these in infants ...

hrp0094ha2 | Biphasic Pattern of Circulating Reproductive Hormones in Female Infants – The Longitudinal COPENHAGEN Minipuberty Study | ESPE2021

Biphasic Pattern of Circulating Reproductive Hormones in Female Infants – The Longitudinal Copenhagen Minipuberty Study

Lindhardt Ljubicic Marie , Siegfried Busch Alexander , Upners Emmie , Bistrup Fischer Margit , Holm Petersen Jorgen , Lau Raket Lars , Frederiksen Hanne , Holm Johannsen Trine , Juul Anders , Hagen Casper P.

Background: Minipuberty denotes a transient activation of the hypothalamic-pituitary-gonadal (HPG) hormone axis in infancy. This activation provides an opportunity to examine the gonadal function in infants suspected of hypogonadism before the axis is silenced during childhood. However, female minipuberty remains poorly elucidated. Objective: The study aimed to evaluate dynamic changes in luteinizing hormone (LH), follic...

hrp0097fc7.4 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

The effect of common genetic variants in CYP19A1 on serum Estradiol to Testosterone Ratio in healthy Danish children and adolescents

L. R. Groendahl Veronica , A. Holmboe Stine , S. Busch Alexander , Aksglaede Lise , P. Hagen Casper , H. Johannsen Trine , H. Petersen Jørgen , Almstrup Kristian , Frederiksen Hanne , Juul Anders

Background and Aim: Despite the broad individual variation of pubertal maturation, references traditionally describe growth in relation to just chronological age and not biological age. Hence, growth references for the adolescent period have been of limited usefulness for monitoring individual growth in clinic and for research. Especially for children and adolescents with chronic diseases is there a need to better evaluate if changes in SD-scores just before a...

hrp0089rfc12.2 | Diabetes and Insulin 2 | ESPE2018

Bone Mineral Density is Increased in 276 Danish Children and Adolescents with Type-1-Diabetes

Madsen Jens Otto Broby , Herskin Camilla Winther , Zerahn Bo , Olsen Birthe Susanne , Pociot Flemming , Johannesen Jesper

Objectives: Bone health is affected in Type-1-Diabetis (T1D) causing higher risk of hip fractures, prolonged fracture healing and altered bone mineral density (BMD). In T1D adults BMD is found to be decreased. In this study we have measured the BMD in children and adolescents from the Copenhagen Pediatric T1D Cohort.Methods: 276 children and adolescents (131 girls) were included from the diabetes outpatient clinic at Herlev University Hospital. All patie...

hrp0097p1-16 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Low bone mineral density in children with Cerebral Palsy and its risk factors: finding a way to prevent secondary osteoporosis

Lindblad Pedersen Marianne , Mol Debes Nanette , Engel Høi-Hansen Christina , Johannesen Jesper

Introduction: Children with cerebral palsy (CP) has an increased risk of bone fragility, low areal bone mineral density (aBMD) and low trauma fractures leading to increased pain experience, decreased mobility and lower quality of life.Purpose: The aim of this study was to determine the prevalence of low BMD among children with cerebral palsy in Denmark across the spectrum of gross motor function scale (GMFCS) of I-V and ...

hrp0084p1-117 | Puberty | ESPE2015

Transient Breast Budding in Healthy Girls is a Frequent Phenomenon: Description of Pubertal Progression and Associations to Gonadotropins, Estradiol and FSHB/FSHR Genetic Polymorphisms

Johansen Marie Lindhardt , Hagen Casper P , Mieritz Mikkel G , Petersen Jorgen Holm , Juul Anders

Background: Intermittent breast budding (girls entering stage B2 and then subsequently regressing to B1) in healthy girls is a frequent phenomenon observed by most clinicians. However, little is known of normal progression of female puberty, and the phenomenon of transient breast development has, to our knowledge, never been studied in details.Objective and hypotheses: We present and validate the female Puberty Nomogram indicating age specific SD<...

hrp0086p1-p347 | Gonads &amp; DSD P1 | ESPE2016

The International AGD Consortium: A Multi-center Study of 3939 Infants and Children with Anogenital Distance Measurements

Lindhardt Johansen Marie , Thankamony Ajay , Acerini Carlo , Kold Jensen Tina , Main Katharina M. , Holm Petersen Jorgen , Swan Shanna , Juul Anders

Background: The anogenital distance (AGD) is considered a valid marker of altered androgen action in utero. Recently, reduced AGD has been shown in males with hypospadias, cryptorchidism, reduced semen quality and infertility. It has also been proposed as a new marker to be used by clinicians when managing patients with Disorders of Sex Development. However, little normative data exist and measurement methods vary.Objective and hypotheses: We established...

hrp0095p1-250 | Diabetes and Insulin | ESPE2022

The Metabolic Syndrome is frequent in Children and Adolescents with Type 1 Diabetes Compared to Healthy Controls

Barrett Mørk Freja , Otto Broby Madsen Jens , Ascanius Pilgaard Kasper , Kryger Jensen Andreas , Klakk Heidi , Tarp Jakob , Bugge Anna , Heidemann Malene , Van Hall Gerrit , Pociot Flemming , Wedderkopp Niels , Johannesen Jesper

Background: There is a rise in overweight and obesity among children and adolescents with type 1 diabetes (T1D) in parallel with a rise in the metabolic syndrome (MS) among children and adolescents in general.Objective: The aim of the study was to describe the prevalence and characteristics of the MS in children and adolescents with T1D compared to their healthy counterparts.Design and Sett...