Biomaterial Database

Cat eye syndrome with hypogonadotropic hypogonadism. 1998

H Masukawa, and T Ozaki, and T Nogimori

Department of Internal Medicine, Konan Showa Hospital, Nagoya.

A 17-year-old male diagnosed as having Cat Eye Syndrome (CES) with hypogonadotropic hypogonadism showed short stature and no development of secondary sex characteristics. Exogeneous gonadotropin replacement therapy combining human chorionic gonadotropin (hCG) and human menopausal gonadotropin (hMG) was started. As a result, the short stature and androgen deficiency were relieved. The critical region of CES was tetrasomy of 22 pter-->q11. Abnormalities of other chromosomes which cause hypogonadotropic hypogonadism may exist, thus further investigation is needed.

UI	MeSH Term	Description	Entries
D007006	Hypogonadism	Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).	Hypergonadotropic Hypogonadism,Hypogonadism, Isolated Hypogonadotropic,Hypogonadotropic Hypogonadism,Hypogonadism, Hypergonadotropic,Hypogonadism, Hypogonadotropic
D007018	Hypopituitarism	Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.	Adenohypophyseal Hyposecretion,Anterior Pituitary Hyposecretion Syndrome,Sheehan Syndrome,Simmonds Disease,Hyposecretion Syndrome, Anterior Pituitary,Hyposecretion, Adenohypophyseal,Pituitary Insufficiency,Postpartum Hypopituitarism,Postpartum Panhypopituitarism,Postpartum Pituitary Insufficiency,Sheehan's Syndrome,Simmonds' Disease,Disease, Simmonds,Hypopituitarism, Postpartum,Insufficiency, Pituitary,Panhypopituitarism, Postpartum,Pituitary Insufficiency, Postpartum,Sheehans Syndrome,Simmond's Disease,Syndrome, Sheehan,Syndrome, Sheehan's
D008297	Male		Males
D008596	Menotropins	Extracts of urine from menopausal women that contain high concentrations of pituitary gonadotropins, FOLLICLE STIMULATING HORMONE and LUTEINIZING HORMONE. Menotropins are used to treat infertility. The FSH:LH ratio and degree of purity vary in different preparations.	Gonadotropins, Human Menopausal,Human Menopausal Gonadotropin,CP-89044,CP-90033,HMG Ferring,HMG Lepori,HMG Massone,Humegon,Menogon,Menopur,Menotrophin,Normegon,ORG-31338,Pergonal,Pergonal-500,CP 89044,CP 90033,CP89044,CP90033,Gonadotropin, Human Menopausal,Human Menopausal Gonadotropins,Lepori, HMG,Menopausal Gonadotropin, Human,ORG 31338,ORG31338,Pergonal 500,Pergonal500
D010907	Pituitary Hormones	Hormones secreted by the PITUITARY GLAND including those from the anterior lobe (adenohypophysis), the posterior lobe (neurohypophysis), and the ill-defined intermediate lobe. Structurally, they include small peptides, proteins, and glycoproteins. They are under the regulation of neural signals (NEUROTRANSMITTERS) or neuroendocrine signals (HYPOTHALAMIC HORMONES) from the hypothalamus as well as feedback from their targets such as ADRENAL CORTEX HORMONES; ANDROGENS; ESTROGENS.	Hormones, Pituitary
D011628	Puberty, Delayed	The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.	Delayed Puberty
D002892	Chromosomes, Human, Pair 22	A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.	Chromosome 22
D004393	Dwarfism, Pituitary	A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.	Growth Hormone Deficiency Dwarfism,Hypophysial Dwarf,Hyposomatotrophic Dwarfism,Pituitary Dwarf,Dwarfism, Growth Hormone Deficiency,Isolated GH Deficiency,Isolated Growth Hormone Deficiency,Isolated HGH Deficiency,Isolated Human Growth Hormone Deficiency,Isolated Somatotropin Deficiency,Isolated Somatotropin Deficiency Disorder,Nanism, Pituitary,Pituitary Dwarfism,Pituitary Nanism
D006063	Chorionic Gonadotropin	A gonadotropic glycoprotein hormone produced primarily by the PLACENTA. Similar to the pituitary LUTEINIZING HORMONE in structure and function, chorionic gonadotropin is involved in maintaining the CORPUS LUTEUM during pregnancy. CG consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is virtually identical to the alpha subunits of the three pituitary glycoprotein hormones (TSH, LH, and FSH), but the beta subunit is unique and confers its biological specificity (CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN).	Chorionic Gonadotropin, Human,HCG (Human Chorionic Gonadotropin),Biogonadil,Choriogonadotropin,Choriogonin,Chorulon,Gonabion,Human Chorionic Gonadotropin,Pregnyl,Gonadotropin, Chorionic,Gonadotropin, Human Chorionic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man