hrp0098p1-66 | Growth and Syndromes 1 | ESPE2024

Turner Syndrome Across Karyotypes: The importance of the short arm of the X chromosome and Neutrophil-Driven Inflammatory Stress

Ochsner Ridder Lukas , Just Jesper , Marie Bruun Johannsen Emma , Magnus Bernth Jensen Jens , Steen Petersen Mikkel , Viborg Helene , Kjærgaard Kenneth , Redder Jacob , Stochholm Kirstine , Skakkebæk Anne , Gravholt Claus

Background: Turner syndrome (TS) is associated with short stature, hypogonadism, autoimmune diseases and metabolic conditions. Genome-wide changes in TS affect both transcriptome and methylome. Genomic studies have primarily focused on 45,X, but only 35-45% of the TS population has 45,X, while the remaining TS have other karyotypes.Methods: We used 5 study cohorts. A “genomic cohort” of TS with 45,X karyotype...

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<...

hrp0084p2-526 | Puberty | ESPE2015

Serum AMH Levels are Lower in Healthy Boys Who Develop Pubertal Gynaecomastia

Mieritz Mikkel G , Hagen Casper P , Almstrup Kristian , Petersen Jorgen H , Raket Lars L , Sommer Stefan H , Juul Anders

Background: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-müllerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieri...

hrp0082ha2 | Pubertal onset in girls is strongly influenced by genetic variation in promoters affecting FSH action | ESPE2014

Pubertal Onset in Girls is Strongly Influenced by Genetic Variation in Promoters Affecting FSH Action

Hagen Casper P , Sorensen Kaspar , Aksglaede Lise , Mouritsen Annette , Mieritz Mikkel G , Tinggaard Jeanette , Wohlfart-Veje Christine , Petersen Jorgen H , Main Katharina M , Meyts Ewa Rajpert-De , Almstrup Kristian , Juul Anders

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

hrp0098p1-68 | Growth and Syndromes 1 | ESPE2024

Impact of Idiopathic Short Stature (ISS) on children’s well-being.

Juul Anders , Linglart Agnes , Højby Rasmussen Michael , Lund Leunbach Tina , Pietropoli Alberto , Pedersen Mikkel , de Fries Jensen Lasse

Introduction: Idiopathic short stature (ISS) is characterized by a reduced height (at least 2 standard deviation scores [SDS]) from expected norms based on age, sex, and population-specific height standards in the absence of growth hormone (GH) deficiency or other known etiologies. ISS is a registered indication for GH therapy in USA but not in Europe. The psychosocial burden of ISS remains underexplored, including its impact on quality of life. Using National...

hrp0082fc14.4 | Puberty | ESPE2014

Development of Pubertal Gynaecomastia: a Longitudinal Cohort Study

Mieritz Mikkel G , Hagen Casper P , Juul Anders

Background: Pubertal gynaecomastia (PG) is considered a clinical sign of an oestrogen–androgen imbalance at the breast tissue level although little evidence exists. PG occurs in 40–60% of adolescent Caucasian boys, and in most cases however, no underlying endocrinopathy can be identified. Very few longitudinal studies on PG exist.Objective and method: As a part of the longitudinal COPENHAGEN Puberty Study we followed 110 healthy Danish boys (ag...

hrp0086rfc14.8 | Growth : Mechanisms | ESPE2016

ACAN Mutations in Short Children Born SGA; Growth Response During GH Treatment with Additional GnRHa, and a Proposed Clinical Scoring System

van der Steen Manouk , Hokken-Koelega Anita C.S.

Background: In children born SGA with persistent short stature, growth hormone (GH) treatment is an approved therapy for increasing adult height (AH). Some SGA children have an advanced bone age (BA) during GH. Heterozygous mutations in the ACAN-gene have been described in children with idiopathic short stature and advanced BA.Objective and hypotheses: To assess growth during GH treatment with additional GnRHa treatment, in children with ACAN-gene mutati...

hrp0082p2-d1-419 | Growth Hormone | ESPE2014

Pubertal Development During GH Treatment with or without Additional GnRH Analogue Treatment in Short Children Born Small for Gestational Age

van der Steen M , Lem A J , Hokken-Koelega A C S

Background: GH treatment is effective in improving adult height (AH) in short children born Small for Gestational Age. If SGA children are short at the start of puberty, they could benefit from combined GH/GnRH Analogue (GnRHa) treatment.Objective and hypotheses: To determine the timing and progression of pubertal development in short SGA children, comparing GH treatment with combined GH/GnRHa treatment.Method: For the present stud...

hrp0084fc14.6 | Puberty | ESPE2015

An Evaluation of Glandular Breast Tissue Development and Volume by MRI in 121 Healthy Peripubertal Girls

Fugl Louise , Hagen Casper , Mieritz Mikkel , Tinggaard Jeanette , Fallentin Eva , Main Katharina , Juul Anders

Background: Since the late 1960’s, pubertal breast staging has been based on Tanner’s classification. Appearance of glandular breast tissue may be difficult to distinguish by palpation from the surrounding subcutaneous fat tissue, especially in obese girls. To our knowledge, validation of the clinical assessment of pubertal stages by MRI quantification of glandular breast tissue has never been performed.Objective and hypotheses: i) To report no...

hrp0092s8.1 | Autoimmunity: From Diagnosis to Treatment | ESPE2019

New Autoantibodies in Endocrine Autoimmunity Development: Lessons from APECED

Peterson Pärt

Patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), develop autoantibodies to multiple self-proteins. The patients have high titer autoantibodies to multiple cytokines, most prominently to type 1 interferons and cytokines associated with Th17 cell functions. In addition to these signature autoantibodies, APECED patients develop autoantibodies to many other self-proteins characteristic to autoimmune diseases and display broad autoantibody repe...