True precocious puberty in a girl with the fragile X syndrome

American Journal of Medical Genetics
P S MooreJ S Winter

Abstract

A 2.8-year-old girl was investigated for early breast development and delayed psychomotor development. Chromosome analysis showed a fragile site at Xq27. Skeletal maturation was advanced. Computerized tomography of the head was normal. Pelvic ultrasonography showed ovaries and uterus enlarged for age. Basal serum gonadotropins were within the normal prepubertal range, but serum luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels rose during sleep and following stimulation by gonadotropin-releasing hormone (GnRH), consistent with true precocious puberty. The occurrence of precocious puberty in this girl, and macro-orchidism in affected males may be a reflection of an underlying disturbance of hypothalamic-pituitary-gonadal function in fragile X patients.

References

Jan 1, 1978·American Journal of Medical Genetics·P BowenK A Swallow
Oct 10, 1977·JAMA : the Journal of the American Medical Association·R H RuvalcabaJ B Beckwith
Jul 7, 1976·Human Genetics·J M CantúG Pérez-Palacios
Dec 1, 1975·Journal of Medical Genetics·G TurnerB Turner
Jan 1, 1986·American Journal of Medical Genetics·G D BerkovitzC J Migeon
Dec 1, 1988·American Journal of Medical Genetics·M G Butler, J L Najjar
Jun 1, 1987·The Journal of Pediatrics·A E Chudley, R J Hagerman
Feb 1, 1985·Archives of Disease in Childhood·S SalardiA Reggiani
Jan 1, 1986·American Journal of Medical Genetics·J P Fryns
Jan 1, 1983·Advances in Human Genetics·G Turner, P Jacobs
Jan 1, 1984·American Journal of Medical Genetics·D L MeryashP S Gerald
Dec 1, 1980·Archives of Disease in Childhood·A M PasquinoB Boscherini
Jun 1, 1983·Journal of Medical Genetics·A McDermottA Gardner

❮ Previous
Next ❯

Citations

Jul 13, 2011·Journal of Neurology·Anne Gallagher, Brian Hallahan
Aug 17, 2002·Psychoneuroendocrinology·D HesslA L Reiss
Nov 1, 1996·Journal of Pediatric and Adolescent Gynecology·C L KowalczykG L Feldman
Aug 1, 1992·Journal of Medical Genetics·E F Tizzano, M Baiget
Jun 1, 1991·American Journal of Medical Genetics·P S MooreJ S Winter
May 23, 2006·Journal of Child Psychology and Psychiatry, and Allied Disciplines·David HesslAllan L Reiss
Mar 3, 2004·Mental Retardation and Developmental Disabilities Research Reviews·David HesslAllan L Reiss
Sep 11, 1995·American Journal of Medical Genetics·D Z LoeschN H Hoang
Aug 1, 1996·Journal of Speech and Hearing Research·E YairiN Cox
Feb 24, 2001·American Journal of Medical Genetics·E L GouldR M Huggins
Aug 1, 1992·Journal of Medical Genetics·I Fenton, J Sampson
Apr 1, 1994·Clinical Genetics·C Schrander-StumpelJ P Fryns
Jul 29, 2017·International Journal of Pediatrics·Chariyawan CharalsawadiPornprot Limprasert

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

American Journal of Medical Genetics
M G Butler, J L Najjar
American Journal of Medical Genetics
R M GoodmanR Chaki
Journal of Developmental and Behavioral Pediatrics : JDBP
Jacob WisbeckA L Reiss
American Journal of Medical Genetics
G D BerkovitzC J Migeon
© 2021 Meta ULC. All rights reserved