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 ...

hrp0082fclb4 | Late Breaking Abstracts | ESPE2014

Does Severity of Hypothyroidism at Birth Contribute to Abnormal Cortical Development among Children with Congenital Hypothyroidism?

Rovet Joanne , Clairman Hayyah , Skocic Jovanka

Background: Despite early detection and treatment, children with Congenital Hypothyroidism show subtle persisting deficits in various cognitive abilities. Degree and type of deficit reflect CH severity at time of diagnosis. We reported (Rovet et al., ATA, 2012) children with CH had abnormal cortical morphology, consistent with animal evidence showing early thyroid hormone (TH) insufficiency affects cortical development. It is not known, however, whether these cortical...

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...

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...

hrp0084p2-255 | Diabetes | ESPE2015

Significant Impact of Nocturnal Melatonin Secretion on Obesity-Related Metabolic Disorders in Children and Adolescents

Overberg Johanna , Kuhnen Peter , Ernert Andrea , Krude Heiko , Wiegand Susanna

Background: In addition to its function in circadian rhythm Melatonin plays an important role in energy metabolism and body weight regulation. In animals pinealectomy induces insulin resistance and administration of melatonin to diabetes prone rats ameliorates their glucose metabolism. Furthermore loss-of-function mutations of the melatonin receptor gene are associated with insulin resistance and DM II in humans.Objective and hypotheses: So far the effec...

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...

hrp0089lb-p9 | Late Breaking P1 | ESPE2018

Two Siblings with Autosomal Recessive Syndromic Hypopituitarism Caused By Mutations in TBC1D32

Hietamaki Johanna , Iivonen Anna-Pauliina , Kansakoski Johanna , Miettinen Paivi J. , Liu Xiaonan , Vaaralahti Kirsi , Hero Matti , Varjosalo Markku , Raivio Taneli

Patients who suffer from congenital hypopituitarism display a wide spectrum of phenotypes including pituitary hormone deficiencies and, in some cases, additional extrapituitary manifestations depending on the causative gene. A group of genes underlying hypopituitarism has been identified, yet several of them remain unknown. Here, we identified compound heterozygous variants in the TBC1D32 gene, c.1165_1166dupGT, p.(Gln390Phefs*32) and c.2151delA, p.(Lys717Asnfs*29) in...