Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice
نویسندگان
چکیده
منابع مشابه
I-3: Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism (HH) is an uncommon cause of male infertility and a congenital or secondary disorder characterized by delayed or absent sexual maturation. Congenital abnormalities leading to HH are usually the consequence of deficient GnRH secretion occurring either in isolation (idiopathic hypogonadotropic hypogonadism (IHH)), or in association with anosmia (Kallmann syndrome; KS...
متن کاملFamilial hypothalamic hypogonadotropic hypogonadism.
Clinical findings and endocrine studies are reported concerning six subjects (from two pedigrees) suffering from isolated hypogonadotropic hypogonadism. Their complete lack of any gonadotropin response to clomiphene stimulation, together with positive responses of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) to LH-releasing-hormone stimulation (LH-RH) provide evidence for a h...
متن کاملHypogonadotropic Hypogonadism Revisited
Impaired testicular function, i.e., hypogonadism, can result from a primary testicular disorder (hypergonadotropic) or occur secondary to hypothalamic-pituitary dysfunction (hypogonadotropic). Hypogonadotropic hypogonadism can be congenital or acquired. Congenital hypogonadotropic hypogonadism is divided into anosmic hypogonadotropic hypogonadism (Kallmann syndrome) and congenital normosmic iso...
متن کاملClinical, endocrinological, and molecular genetic characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism in childhood and adolescence
Aims Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by delayed or absent sexual development associated with low gonadotropin and sex steroid levels. IGD is classified as Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). This study was undertaken to investigate clinical and endocrinological profiles in patients wi...
متن کاملCentral Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease
Central hypogonadotropic hypogonadism (CHH) is an emerging pathological condition frequently associated with overweight, metabolic syndrome, diabetes, and midline defects. The genetic mechanisms involve mutations in at least twenty-four genes regulating GnRH neuronal migration, secretion, and activity. So far, the mechanisms underlying CHH, both in prepubertal and in adulthood onset forms, rema...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2020
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-020-02148-0