hrp0098t15 | Top 20 Posters | ESPE2024

Alterations in BMI and Body Composition Twelve Months After Cessation of Growth Hormone Therapy in Adolescents with Prader-Willi Syndrome (PWS)

Lämmer Constanze , Werner Uta , de Potzolli Brigitte , Schnitzlein Johanna , Völkl Thomas MK

Introduction: PWS is a congenital hypothalamic disorder characterized by short stature and obesity due to hyperphagia. Early growth hormone therapy (GHT) has been shown to positively alter the phenotype of the disease and improve final height, BMI, body composition, and metabolic parameters. The aim of this study was to analyze the course of BMI and body composition during the first year after cessation of GHT. Methods: ...

hrp0098p1-209 | Adrenals and HPA Axis 3 | ESPE2024

Early Childhood-Onset Non-Classical CAH (NCCAH) Presenting with Premature Pubarche and Clitoromegaly Caused by CYP21A2 Duplication Without Gene Mutation in Triplets

Schnitzlein Johanna , Lämmer Constanze , de Potzolli Brigitte , Schulze Egbert , MK Völkl Thomas

Introduction: With an overall prevalence of 1:200 to 1:1,000, NCCAH due to 21-hydroxylase deficiency is an important cause of premature pubarche in 5 to 20% of cases. Clitoromegaly is present in up to 11% of adolescents with NCCAH but is not regularly reported in infancy and childhood. Affected children may exhibit advanced bone age, rapid linear growth, and tall stature. Genetically, several compound heterozygous mutations of the CYP21A2 gene are known, as we...

hrp0084s7.1 | Hypogonadotropic hypogonadism: diagnostic and therapeutic approach | ESPE2015

Genetics of Congenital Hypogonadotropic Hypogonadism

Tommiska Johanna

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by incomplete or absent puberty caused by the lack or deficient number of hypothalamic GnRH neurons, disturbed secretion or action of GnRH, or both. The association of CHH and a defective sense of smell (anosmia or hyposmia) found in approximately half of the CHH patients is termed Kallmann syndrome (KS). CHH is clinically and genetically heterogeneous, and >25 different causal genes have been ...

hrp0084p1-121 | Puberty | ESPE2015

A Missense Mutation in MKRN3 in a Danish Girl with Central Precocious Puberty and Her Brother with Early Puberty

Kansakoski Johanna , Raivio Taneli , Juul Anders , Tommiska Johanna

Background: Idiopathic central precocious puberty (ICPP) results from the premature reactivation of the hypothalamic-pituitary-gonadal axis leading to development of secondary sexual characteristics prior to 8 years in girls or 9 years in boys. Mutations in the maternally imprinted MKNR3 gene are the most common identified genetic cause of ICPP to date. Expression of MKRN3 in the arcuate nucleus is presumed to be inhibitory to GnRH secretion, but the exact mechanism remains un...

hrp0082p3-d1-959 | Sex Development | ESPE2014

Partial Androgen Insensitivity Syndrome in a Boy with Inactivating Androgen Receptor Mutation and Somatic Mosaicism

Tommiska Johanna , Keskinen Paivi , Raivio Taneli

Background: Mutations in the X-chromosomal androgen receptor (AR) gene, rendering the AR protein completely or partially inactive, cause complete or partial (PAIS) androgen insensitivity syndrome.Case report: The proband was born at term following uneventful pregnancy. His phallus length was 28 mm, he had palpable gonads in the lower portion of the inguinal canal, and he had a severe penoscrotal hypospadia. His karyotype was 46,XY, and molecular...

hrp0098p2-269 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Exercise and Eating Behaviors in Transgender and Gender Diverse Adolescents

Knaus Sarah , Steininger Johanna , Riedl Stefan

Background: Obesity as a risk factor and predictor for cardiovascular outcomes is of particular interest in gender-affirming healthcare, as hormone therapy can negatively impact lipid profiles and alter body fat percentages. Transgender and gender diverse (TGD) populations are at a higher risk for obesity than cisgender populations. This trend is already visible in adolescents. The reasons for this disparity are multifaceted and require further investigation.<...

hrp0095p1-369 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Prevalence of Overweight and Obesity in a Transgender Youth Cohort

Knaus Sarah , Steininger Johanna , Häusler Gabriele , Riedl Stefan

Background: Overweight as a predictor of adverse cardiovascular outcome is of particular interest in gender-affirming healthcare. Transgender populations are at a higher risk for obesity, possibly due to a combination of minority stress, psychiatric comorbidity, and lifestyle differences, such as reluctance to participate in group sports as a consequence of social withdrawal. However, robust auxological data in transgender adolescents is scarce.<p class="a...

hrp0086p1-p747 | Pituitary and Neuroendocrinology P1 | ESPE2016

Etiology, Differential Diagnosis and Clinical Course of Delayed Puberty: A Single Center Experience

Varimo Tero , Miettinen Paivi , Kansakoski Johanna , Raivio Taneli , Hero Matti

Background: Delayed puberty (DP) is generally considered a benign condition. We investigated the diagnoses underlying DP and its outcome predictors.Objective: A retrospective chart review which included clinical and biochemical data of 174 boys and 70 girls evaluated for DP in a single tertiary care center between 2004 and 2014.Results: Thirty etiologies that underlie DP were identified. No markers of clinical value could be identi...

hrp0084fc4.6 | Growth | ESPE2015

Positive Association between Height and Cancer in the Swedish Population

Benyi Emelie , Linder Marie , Adami Johanna , Palme Marten , Savendahl Lars

Background: Previous studies have indicated that taller individuals have a higher risk of developing different types of cancer, including breast cancer and melanoma.Objective and hypotheses: Our goal was to study any association between height and the risk of cancer in general-, and breast cancer and melanoma specifically in a very large cohort composed of most Swedish women and men followed over a long period of time.Method: We ha...

hrp0084p1-113 | Puberty | ESPE2015

Relevance of Astrocytic Signals for GnRH-Neuronal Function

Ernst Johanna , Moeller Hanna , Pfeifer Manuel , Heger Sabine

Background: Gonadotropin releasing hormone (GnRH)-secretion is not only regulated by neuronal factors but also by astroglia cells via growth factors (transforming growth factor α (TGFα), neuregulin (NRG)), prostaglandin E2 (PGE2) and the erbB receptor family. Mutations of TGFα and erbB1 result in an impaired reproductive capacity. Mice show a characteristically skin phenotype with wavy hair and curly whiskers. The rat strain SPRD-Cu3 (curly) shows a sim...