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Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene

Article Abstract:

Mutations of the luteinizing hormone-receptor gene (LH) appears to cause defective external male and female genitalia. LH regulates male and female sexual differentiation by transmitting hormonal signals to the testes and ovaries. Researchers analyzed the genetic mutations in the members of two unrelated families. One family had three daughters without breasts or menstruation at the ages of 15, 32 and 23 years. The three sisters had their ovaries removed, responded well to estrogen therapy, and developed breasts. A fourth sister had normal breasts and genitalia but no menstruation at the age of 22 years. The other family had a six-year-old boy with a miniature penis. DNA-sequencing analysis revealed a mutation at nucleotide 1660 of the LH-receptor in the members of the first family. The boy with micropenis had a substitution at nucleotide 1847 of the LH-receptor.

Author: Chrousos, George P., Mendonca, Berenice B., Rapaport, Robert, Latronico, Ana C., Anasti, James, Arnhold, Ivo J.P., Bloise, Walter, Castro, Margaret, Tsigos, Constantine
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1996
Abnormalities, Genetic aspects, DNA damage, Gonadotropin releasing hormone, Gonadorelin, Amenorrhea, Reproductive organs, Genitalia, Luteinizing hormone

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The long-term outcome of pituitary irradiation after unsuccessful transsphenoidal surgery in Cushing's disease

Article Abstract:

Patients with Cushing's disease appear to significantly benefit from radiation therapy on the pituitary gland with minimal side effects. Long-term disease progression and hormonal gland function and production were evaluated for 30 adult patients with Cushing's disease after radiation therapy following unsuccessful pituitary surgery. No further signs of disease occurred in 83% of the patients during a 42-month median follow-up time. Side effects included lowered production of gonadotropin, growth hormone, corticotropin, or thyrotropin.

Author: Estrada, Javier, Boronat, Mauro, Mielgo, Mercedes, Magallon, Rosa, Millan, Isabel, Diez, Santiago, Lucas, Tomas, Barcelo, Balbino
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1997
Health aspects, Care and treatment, Usage, Radiotherapy, Cushing syndrome, Pituitary gland, Ketoconazole

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Subjects list: Physiological aspects
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