hrp0092s5.3 | Impact of Genomics on Growth | ESPE2019

The Role of KCNQ1 in Pituitary Development

Raivio Taneli

Childhood onset of growth hormone deficiency (GHD) is a clinically heterogeneous condition and defining its cause is important for diagnostics and treatment. The most common genes implicated in the genetic etiology of growth hormone deficiency (GHD) are GH1 (MIM: 139250), encoding growth hormone (GH), and GHRHR (MIM: 139191), encoding the receptor for GHRH. GHD may also result from mutations in genes that encode transcription factors involved in pituitary dev...

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...

hrp0086p2-p780 | Pituitary and Neuroendocrinology P2 | ESPE2016

Precocious Puberty: A Single Academic Center Experience

Huttunen Heta , Varimo Tero , Miettinen Paivi , Hero Matti , Raivio Taneli

Background: The frequency of makorin RING-finger protein 3 gene (MKRN3) mutations in Finnish patients with precocious puberty (PP) is not known. As a first step to investigate this, we describe the diagnoses underlying PP in a single academic center.Objective and hypotheses: To review the diagnoses in children who were presented with signs of PP (adrenarche excluded) at the Helsinki University Hospital, with a special emphasis on the identification of fa...

hrp0082fc5.1 | Neuroendocrinology | ESPE2014

Derivation of GnRH Neuron-Like Cells from Human Embryonic Stem Cell-Derived Neural Crest Progenitors

Noisa Parinya , Chokechuwattanalert Hataiwan , Lund Carina , Tuuri Timo , Raivio Taneli

Background: Neural crest (NC) cells emerge at the interface between neural and non-neural ectoderm, and migrate extensively to form a variety of NC derivatives such as peripheral neurons, glia, melanocytes, endocrine cells, and mesenchymal precursor cells. NC cells possess various unique properties and are capable of undergoing cell fate decisions across multiple tissues and germ layers. In zebrafish and mouse, GnRH neurons are reported to arise also from NC.<p class="abst...

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...

hrp0084p2-325 | DSD | ESPE2015

Frequency of Cryptorchidism and Age at Operation in Helsinki Area between 2004 and 2014

Kohva Ella , Miettinen Paivi , Taskinen Seppo , Raivio Taneli

Background: Cryptorchidism is a risk factor for testicular cancer and poor semen quality. The incidence of cryptorchidism has been lower in Finland than in the other Nordic countries.Objective and hypotheses: We focused to investigate the recent trends in the incidence of undescended testes in the Helsinki area. In addition, we evaluated the age at orchidopexy before and after the release of the Nordic consensus in 2007 recommending operation between 6 a...

hrp0092p1-88 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Etiology of Severe Short Stature: Single Center Experience

Kärkinen Juho , Miettinen Päivi J , Raivio Taneli , Hero Matti

Background: Based on growth screening rules, severe short stature (i.e. height SDS less than -3), at the age of more than 3 years, warrants diagnostic evaluation in specialized health care. In the absence of apparent underlying cause, targeted and eventually untargeted genetic studies have been proposed. However, the etiology of short stature at the severe end of the spectrum is poorly characterized.Methods: We ...

hrp0092p1-395 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Presentation and Diagnosis of Childhood Onset Combined Pituitary Hormone Deficiency: A Single Center Experience from Over 30 Years.

Hietamäki Johanna , Miettinen Päivi J. , Hero Matti , Tarkkanen Annika , Raivio Taneli

Background: We describe the incidence, etiologies and clinical features of combined pituitary hormone deficiency (CPHD) in pediatric patients from a single tertiary center.Methods: The cohort comprised of patients with CPHD, treated in the Helsinki University Hospital between 1985 and 2018. They were identified through an ICD-9/ICD-10 code search, and the clinical data were recorded from the patient charts.<p class="...

hrp0082fc14.6 | Puberty | ESPE2014

Quality of Life in Patients with Congenital Hypogonadotropic Hypogonadism

Varimo Tero , Hero Matti , Laitinen Eeva-Maria , Sintonen Harri , Raivio Taneli

Background: Little is known about the burden of disease, as evaluated by health related quality of life (HRQoL), in patients with congenital hypogonadotropic hypogonadism (CHH). We characterized the (HRQoL) in a relatively large and well-characterized population of patients with CHH using the 15D, a comprehensive preference-based generic instrument in sampling dimensions for the construct of HRQoL. 15D covers most of the ‘domains of health’ emphasized in the WHO Inte...