4 documents found, page 1 of 1
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism
Gonçalves, CI; Patriarca, FM; Aragüés, JM; Carvalho, D; Fonseca, F; Martins, S; Marques, O; Pereira, BD; Martinez-de-Oliveira, J; Lemos, MCCongenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormal...
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism
Gonçalves, CI; Patriarca, FM; Aragüés, JM; Carvalho, D; Fonseca, F; Martins, S; Marques, O; Pereira, BD; Martinez-de-Oliveira, J; Lemos, MCCongenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormal...
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadot...
Gonçalves, C; Bastos, M; Pignatelli, D; Borges, T; Aragüés, JM; Fonseca, F; Pereira, BD; Socorro, S; Lemos, MCOBJECTIVE: To determine the prevalence of fibroblast growth factor receptor 1 (FGFR1) mutations and their predicted functional consequences in patients with idiopathic hypogonadotropic hypogonadism (IHH). DESIGN: Cross-sectional study. SETTING: Multicentric. PATIENT(S): Fifty unrelated patients with IHH (21 with Kallmann syndrome and 29 with normosmic IHH). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Patien...
Novel FGFR1 Mutations in Kallmann Syndrome and Normosmic Idiopathic Hypogonadot...
Gonçalves, C; Bastos, M; Pignatelli, D; Borges, T; Aragüés, JM; Fonseca, F; Pereira, B; Socorro, S; Lemos, MOBJECTIVE: To determine the prevalence of fibroblast growth factor receptor 1 (FGFR1) mutations and their predicted functional consequences in patients with idiopathic hypogonadotropic hypogonadism (IHH). DESIGN: Cross-sectional study. SETTING: Multicentric. PATIENT(S): Fifty unrelated patients with IHH (21 with Kallmann syndrome and 29 with normosmic IHH). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Patien...