Biomaterial Database

Familial isolated growth-hormone deficiency with advanced sexual maturation. 1993

A Kauschansky, and H A Cohen, and I Varsano, and Z Laron, and M Frydman

Endocrinology Clinic, Hasharon Hospital, Golda Medical Center, Petah Tiqwa, Israel.

Two brothers, aged 15 1/2 and 13 1/2 years, with dwarfism, microcephaly, and advanced sexual and skeletal maturation are described. One patient was mentally retarded. The parents were first cousins. Endocrine studies of these patients documented low growth-hormone levels after clonidine and insulin stimulation and blunted growth-hormone response to growth hormone releasing hormone. Gonadotropin releasing hormone stimulation produced no changes in levels of luteinizing and follicle-stimulating hormones. Basal levels of 17-alpha-hydroxyprogesterone were elevated in the two patients and increased further in response to stimulation with corticotropin. Levels of testosterone, dehydroepiandrosterone sulfate, and androstenedione were variably increased in both patients and showed a proportional increase on stimulation with human chorionic gonadotropin. To our knowledge, this is the first report of a familial association between growth-hormone deficiency and advanced bone and sexual maturation. A pituitary and an independent adrenal defect could account for the observations in these patients, but in view of the familial recurrence, a common underlying defect is possible.

UI	MeSH Term	Description	Entries
D007328	Insulin	A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).	Iletin,Insulin A Chain,Insulin B Chain,Insulin, Regular,Novolin,Sodium Insulin,Soluble Insulin,Chain, Insulin B,Insulin, Sodium,Insulin, Soluble,Regular Insulin
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
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
D001846	Bone Development	The growth and development of bones from fetus to adult. It includes two principal mechanisms of bone growth: growth in length of long bones at the epiphyseal cartilages and growth in thickness by depositing new bone (OSTEOGENESIS) with the actions of OSTEOBLASTS and OSTEOCLASTS.	Bone Growth
D003000	Clonidine	An imidazoline sympatholytic agent that stimulates ALPHA-2 ADRENERGIC RECEPTORS and central IMIDAZOLINE RECEPTORS. It is commonly used in the management of HYPERTENSION.	Catapres,Catapresan,Catapressan,Chlophazolin,Clofelin,Clofenil,Clonidine Dihydrochloride,Clonidine Hydrochloride,Clonidine Monohydrobromide,Clonidine Monohydrochloride,Clopheline,Dixarit,Gemiton,Hemiton,Isoglaucon,Klofelin,Klofenil,M-5041T,ST-155,Dihydrochloride, Clonidine,Hydrochloride, Clonidine,M 5041T,M5041T,Monohydrobromide, Clonidine,Monohydrochloride, Clonidine,ST 155,ST155
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012739	Gonadal Steroid Hormones	Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE.	Gonadal Steroid Hormone,Sex Hormone,Sex Steroid Hormone,Sex Steroid Hormones,Sex Hormones,Hormone, Gonadal Steroid,Hormone, Sex,Hormone, Sex Steroid,Hormones, Gonadal Steroid,Hormones, Sex Steroid,Steroid Hormone, Gonadal,Steroid Hormone, Sex,Steroid Hormones, Gonadal,Steroid Hormones, Sex