Luteinizing hormone receptor mutations in disorders of sexual development and cancer

Luteinizing hormone receptor mutations in disorders of sexual development and cancer.

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the...

Correlation of serum follicular stimulating hormone (FSH) and luteinizing hormone (LH) as measured by radioimmunoassay in disorders of sexual development.

Serum FSH and LH levels in 104 patients with disorders of sexual development were determined by radioimmunoassay and compared with serum FSH and LH levels in 164 normal individuals.32 of 35 gonadal dysgenesis patients (ages 4.8-18.9 yr) had serum FSH levels which were elevated above the range of normal for chronological age, and 19 had serum LH levels similarly elevated. All patients with eleva...

Thyroid Hormone Receptor Mutations and the Development of Thyroid Cancer

Inactivating Mutations of Luteinizing Hormone -Subunit or Luteinizing Hormone Receptor Cause Oligo-Amenorrhea and Infertility in Women

Women harbouring inactivating mutations in luteinizing hormone (LH) beta subunit ( LHB ) or LH receptor ( LHCGR ) genes have similar clinical manifestations characterized by female external genitalia, spontaneous breast and pubic hair development at puberty, and normal or late menarche followed by oligo-amenorrhea and infertility. Oestradiol and progesterone levels are normal for the early to m...

Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women.

Women harbouring inactivating mutations in luteinizing hormone (LH) beta subunit (LHB) or LH receptor (LHCGR) genes have similar clinical manifestations characterized by female external genitalia, spontaneous breast and pubic hair development at puberty, and normal or late menarche followed by oligo-amenorrhea and infertility. Oestradiol and progesterone levels are normal for the early to midfo...