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 ...

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...

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...

hrp0084p2-482 | Growth | ESPE2015

Childhood Growth of Boys with Congenital Hypogonadotropic Hypogonadism

Varimo Tero , Hero Matti , Laitinen Eeva-Maria , Miettinen Paivi , Tommiska Johanna , Juul Anders , Raivio Taneli

Background: Congenital hypogonadotropic hypogonadism (CHH) provides a model to study the impact of sex steroid deficiency on childhood growth.Aims and objectives: We characterised growth patterns in male CHH patients with special emphasis on growth during the minipuberty of infancy.Methods: Growth charts of 38 men with CHH (28 from Finland and 10 from Denmark) were evaluated. Fifteen (39%) patients had representative length measure...

hrp0086p1-p335 | Gonads & DSD P1 | ESPE2016

Complete Androgen Insensitivity Syndrome Caused by a Deep Intronic Pseudoexon-Activating Mutation in the Androgen Receptor Gene

Kansakoski Johanna , Jaaskelainen Jarmo , Jaaskelainen Tiina , Tommiska Johanna , Saarinen Lilli , Lehtonen Rainer , Hautaniemi Sampsa , Frilander Mikko J. , Palvimo Jorma J. , Toppari Jorma , Raivio Taneli

Background: Androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and to mild (MAIS) forms of androgen resistance, is caused by mutations in the X-linked AR gene that encodes the androgen receptor. Some cases, however, remain without a molecular genetic diagnosis that would confirm the diagnosis especially in cases that have phenotypic similarities with other 46,XY disorders of sex development.Objective and hypoth...