Biomaterial Database

True precocious puberty in a girl with the fragile X syndrome. 1990

P S Moore, and A E Chudley, and J S Winter

Sections of Endocrinology and Metabolism, University of Manitoba, Winnipeg, Canada.

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.

UI	MeSH Term	Description	Entries
D007986	Luteinizing Hormone	A major gonadotropin secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Luteinizing hormone regulates steroid production by the interstitial cells of the TESTIS and the OVARY. The preovulatory LUTEINIZING HORMONE surge in females induces OVULATION, and subsequent LUTEINIZATION of the follicle. LUTEINIZING HORMONE consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the three pituitary glycoprotein hormones (TSH, LH and FSH), but the beta subunit is unique and confers its biological specificity.	ICSH (Interstitial Cell Stimulating Hormone),Interstitial Cell-Stimulating Hormone,LH (Luteinizing Hormone),Lutropin,Luteoziman,Luteozyman,Hormone, Interstitial Cell-Stimulating,Hormone, Luteinizing,Interstitial Cell Stimulating Hormone
D007987	Gonadotropin-Releasing Hormone	A decapeptide that stimulates the synthesis and secretion of both pituitary gonadotropins, LUTEINIZING HORMONE and FOLLICLE STIMULATING HORMONE. GnRH is produced by neurons in the septum PREOPTIC AREA of the HYPOTHALAMUS and released into the pituitary portal blood, leading to stimulation of GONADOTROPHS in the ANTERIOR PITUITARY GLAND.	FSH-Releasing Hormone,GnRH,Gonadoliberin,Gonadorelin,LH-FSH Releasing Hormone,LHRH,Luliberin,Luteinizing Hormone-Releasing Hormone,Cystorelin,Dirigestran,Factrel,Gn-RH,Gonadorelin Acetate,Gonadorelin Hydrochloride,Kryptocur,LFRH,LH-RH,LH-Releasing Hormone,LHFSH Releasing Hormone,LHFSHRH,FSH Releasing Hormone,Gonadotropin Releasing Hormone,LH FSH Releasing Hormone,LH Releasing Hormone,Luteinizing Hormone Releasing Hormone,Releasing Hormone, LHFSH
D011629	Puberty, Precocious	Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.	Familial Precocious Puberty,Idiopathic Sexual Precocity,Precocious Puberty,Precocious Puberty, Central,Precocious Puberty, Male Limited,Precocious Puberty, Male-Limited,Pubertas Praecox,Sexual Precocity,Testotoxicosis,Central Precocious Puberties,Central Precocious Puberty,Familial Precocious Puberties,Idiopathic Sexual Precocities,Male-Limited Precocious Puberties,Male-Limited Precocious Puberty,Praecox, Pubertas,Precocious Puberties,Precocious Puberties, Central,Precocious Puberties, Familial,Precocious Puberties, Male-Limited,Precocious Puberty, Familial,Precocities, Idiopathic Sexual,Precocities, Sexual,Precocity, Idiopathic Sexual,Precocity, Sexual,Puberties, Central Precocious,Puberties, Familial Precocious,Puberties, Male-Limited Precocious,Puberties, Precocious,Puberty, Central Precocious,Puberty, Familial Precocious,Puberty, Male-Limited Precocious,Sexual Precocities,Sexual Precocities, Idiopathic,Sexual Precocity, Idiopathic
D001940	Breast	In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES.	Breasts
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D005600	Fragile X Syndrome	A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)	FRAXA Syndrome,FRAXE Syndrome,Martin-Bell Syndrome,Fra(X) Syndrome,Fragile X Mental Retardation Syndrome,Fragile X-F Mental Retardation Syndrome,Mar (X) Syndrome,Marker X Syndrome,Mental Retardation, X-Linked, Associated With Fragile Site Fraxe,Mental Retardation, X-Linked, Associated With Marxq28,X-Linked Mental Retardation and Macroorchidism,FRAXA Syndromes,FRAXE Syndromes,Fragile X Syndromes,Marker X Syndromes,Martin Bell Syndrome,Syndrome, FRAXA,Syndrome, FRAXE,Syndrome, Fragile X,Syndrome, Marker X,Syndrome, Martin-Bell,Syndromes, FRAXA,Syndromes, FRAXE,Syndromes, Fragile X,Syndromes, Marker X,X Linked Mental Retardation and Macroorchidism
D005640	Follicle Stimulating Hormone	A major gonadotropin secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Follicle-stimulating hormone stimulates GAMETOGENESIS and the supporting cells such as the ovarian GRANULOSA CELLS, the testicular SERTOLI CELLS, and LEYDIG CELLS. FSH consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the three pituitary glycoprotein hormones (TSH, LH, and FSH), but the beta subunit is unique and confers its biological specificity.	FSH (Follicle Stimulating Hormone),Follicle-Stimulating Hormone,Follitropin
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man