idiopathic hypogonadotropic hypogonadism

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idiopathic hypogonadotropic hypogonadism

An inherited condition (OMIM:146110) characterised by a deficiency of the pituitary secretion of FSH and luteinising hormone, impairing pubertal maturation and reproductive function.

References in periodicals archive ?

Hayes, "The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor," The Journal of Clinical Endocrinology & Metabolism, vol.

Beranova, "Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism," The Journal of Clinical Endocrinology & Metabolism, vol.

Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association

Normosmic Idiopathic Hypogonadotropic Hypogonadism (nIHH) Associated Genes

Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism

Molecular defects of the GnRH receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism.

A Novel Mutation Ser34Phe in GNRHR causes Hypogonadotropic Hypogonadism during Pubertal Development in Boys

Crowley, "Osteoporosis in men with idiopathic hypogonadotropic hypogonadism," Annals of Internal Medicine, vol.

Male Hypogonadism and Osteoporosis: The Effects, Clinical Consequences, and Treatment of Testosterone Deficiency in Bone Health

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. Nat Rev Endocrinol 2009;5:569-576.

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

Dwyer et al., "Reversal of idiopathic hypogonadotropic hypogonadism," The New England Journal of Medicine, vol.

A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc.

Frequency of Mutations in The GnRH Receptor Gene in Pakistani Patients With Hypogonadotropic Hypogonadism

(1) Idiopathic hypogonadotropic hypogonadism (IHH) is a condition characterized by failure to undergo puberty in the setting of low sex steroids and low gonadotropins and is due to abnormal secretion or action of the master reproductive hormone gonadotropin-releasing hormone (GnRH).

Isolated secondary Hypogonadism presenting with severe Hyponatremia and central Diabetes Insipidus: a case report

Kaiser, "The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism," Nature Reviews Endocrinology, vol.

Central hypogonadotropic hypogonadism: genetic complexity of a complex disease

Normosmic idiopathic hypogonadotropic hypogonadism (IHH) is characterized by failure to develop secondary sexual characteristics and a mature reproductive system due to defects in the central part of the hypothalamo-pituitary-gonadal axis.

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1

Atabekoglu et al., "Serum anti-Mullerian hormone levels correlate with ovarian response in idiopathic hypogonadotropic hypogonadism," Journal of Assisted Reproduction and Genetics, pp.

Anti-Mullerian hormone and its clinical use in pediatrics with special emphasis on disorders of sex development