Clinical, endocrinological, and molecular genetic characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism in childhood and adolescence

Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience

PURPOSE Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is classified as Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). This study was undertaken to investigate the clinical, endocrinological, and molecular characteristics in Korean patients with KS and nIHH. METHODS Twenty-six patients from 25 unrelated families were include...

Kallmann's syndrome and normosmic isolated hypogonadotropic hypogonadism: two largely overlapping manifestations of one rare disorder.

Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China.

We conducted an analysis of the Kallmann syndrome 1 (KAL-1) genotype in 17 patients with Kallmann syndrome (KS), 9 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) and 20 age-matched normal men in Northwestern China. To do this, we used multiplex PCR analysis with exon-flanking primers and automated sequencing techniques with peripheral blood DNA samples. Intragenic delet...

Genetics of Isolated Hypogonadotropic Hypogonadism: Role of GnRH Receptor and Other Genes

Hypothalamic gonadotropin releasing hormone (GnRH) is a key player in normal puberty and sexual development and function. Genetic causes of isolated hypogonadotropic hypogonadism (IHH) have been identified during the recent years affecting the synthesis, secretion, or action of GnRH. Developmental defects of GnRH neurons and the olfactory bulb are associated with hyposmia, rarely associated wit...

Hypogonadotropic Hypogonadism Associated with Hereditary Hemorrhagic Telengiectasia

A 65-year-old man was referred to our clinic for the rehabilitation of right hemiparesis caused by ischaemic stroke. Hypertension, postphlebitic syndrome of lower limbs, frequent nose bleeding, and anemia were present in his history; in his adolescence, he was treated for idiopathic hypogonadotropic hypogonadism. Further investigations have revealed also microsomia, suggesting a clinical diagno...