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...

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 ...

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...

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 ...

hrp0082p2-d3-403 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Concomitant Changes in Full Body DXA Values and BMI–SDS During Multidisciplinary Treatment of Childhood Obesity

Nielsen Tenna R H , Fonvig Cilius E , Gerds Thomas A , Lausten-Thomsen Ulrik , Holm Jens-Christian

Background: Childhood obesity and related co-morbidities are increasing world wide and consequently effective treatment interventions are much needed.Objective and hypotheses: The aim was to investigate concomitant changes in body composition in relation to changes in BMI–SDS during The Children’s Obesity Clinics Treatment (TCOCT) program. Hypothesis: reductions in body fat percentage may not be revealed by reductions in BMI–SDS.<p cla...

hrp0092fc14.2 | GH and IGF2 | ESPE2019

Pubertal Onset in 1572 Girls with Short, Normal and Tall Stature: Associations to Height, Serum IGF-I and PAPP-A2 Genotypes

Upners Emmie N , Busch Alexander S. , Almstrup Kristian , Petersen Jørgen Holm , Main Katharina , Jensen Rikke Beck , Juul Anders

Background: Sexual maturation is closely linked to growth, suggesting common pathways between the reproductive development and the growth hormone/insulin-like growth factor-I (GH/IGF-I) axis. IGF-I bioavailability is regulated by Pregnancy associated plasma protein-A (PAPP-A), Pregnancy associated plasma protein-A2 (PAPP-A2) and Stanniocalcin 2 (STC2). A large genome-wide association study (GWAS) identified PAPP-A, PAPP-A2 and STC2 to represent loci strongly a...

hrp0084p2-212 | Bone | ESPE2015

The Effect of High Dose Oral 17ß Estradiol on Bone Mineralization and Body Composition in Young Women with Turner Syndrome – A 5 Year Randomized Controlled Clinical Trial

Cleemann Line , Holm Kirsten , Kobbernagel Hanne , Kristensen Bent , Skouby Sven Olaf , Jensen Andreas Emil Kryger , Gravholt Claus

Background: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures and osteoporosis. Body composition in TS is characterised by increased body fat (FM) and decreased lean body mass (LBM), even with a normal BMI. Oestrogen replacement therapy for attaining and preserving normal bone mass is necessary in most TS girls. There is a potential role of age-specific estrogen doses, with lower doses used in the early puberty and higher do...

hrp0082p1-d1-201 | Reproduction | ESPE2014

The Effect of 17β-Estradiol on Uterine Volume in Young Women with Turner Syndrome: a 5-Year Randomized Controlled Clinical Trial

Cleemann Line , Holm Kirsten , Fallentin Eva , Moller Nini , Kristensen Bent , Skouby Sven Oluf , Leth-Esbensen Per , Jeppesen Eva Mosfeldt , Gravholt Claus

Background: The majority of Turner syndrome (TS) girls need exogenous estrogen treatment to induce normal uterine growth. The optimal estrogen treatment protocol has not been determined.Objective and hypotheses: To compare the effect of two different dosing regimens of oral 17β-estradiol on uterine size with the hypotheses that most girls with TS would benefit from a higher dose.Method: A double-blind 5-year randomized control...

hrp0089rfc8.4 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Establishing Age, Sex, and Method Related Reference Ranges for Anogenital Distance - a Marker of In Utero Androgen Action

Ljubicic Marie Lindhardt , Thankamony Ajay , Acerini Carlo , Jensen Tina Kold , Main Katharina M , Petersen Jorgen Holm , Busch Alexander S , Upners Emmie , Hagen Casper P , Swan Shanna H , Juul Anders

Background: Anogenital distance (AGD) is an indicator of androgen action in utero. Reduced AGD has been found in males with hypospadias, cryptorchidism, low semen quality and infertility. Its usefulness as a clinical marker in patients with Disorders of Sex Development (DSD) is currently being investigated. However, detailed age, sex and method related reference ranges do not exist. Whether individual (body-size-adjusted) AGD is stable postnatally also remains to be e...