Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The effect of long-term human chorionic gonadotropin (HCG) therapy on the linear growth and biological growth parameters was studied in six thalassaemic boys aged 14.5-15.5 years old with hypogonadotropic hypogonadism. A significant (P less than 0.001) increase in growth velocity (from 3.3 +/- 0.3 to 7.6 +/- 0.6 cm/year) was found after 6-12 months of therapy, without acceleration of bone age. A striking improvement in pubertal development was observed. The treatment significantly increased growth hormone (GH) response to L-dopa administration (P less than 0.025) as well as sleep GH secretion (P less than 0.025). Serum growth factors, evaluated as thymidine activity during deep sleep, increased (P less than 0.001), but somatomedin C (Sm-C) levels did not. Prior to treatment, baseline and peak values of plasma growth hormone releasing hormone (GH-RH) following L-dopa were low. After HCG therapy, GH-RH response to L-dopa increased significantly (from 9.2 +/- 5.6 to 20.2 +/- 6.2 pg/ml; P less than 0.05), but remained (P less than 0.001) lower than in normal prepubertal children. This study suggests that in thalassaemia major an impaired GH-RH release can be observed, in addition to the described alteration in Sm-C generation.
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PMID:Effect of human chorionic gonadotropin on growth velocity and biological growth parameters in adolescents with thalassaemia major. 249 61

The objective of this paper was to assess the ability of gonadotropin administration to induce ovarian steroidogenesis, follicle maturation and ovulation in hypogonadal women affected by beta-thalassemia. Thirteen hypogonadal thalassemic women underwent a test with gonadotropin-releasing hormone (GnRH), with estimation of serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels. They were then administered human menopausal gonadotropin (hMG) for a period ranging from 11 to 15 days with a total dose variable from 3,300 to 4,200 IU. In each patient, the initial dosage of 300 IU daily, adopted for the first 9 days, was modified subsequently according to the ovarian morphology, as shown by serial echographic examinations and by serum estradiol levels. In those patients in whom a dominant follicle was evidenced and the occurrence of pregnancy could be excluded, induction of ovulation was attempted by administration of 10,000 IU of human chorionic gonadotropin (hCG). All patients displayed a reduced LH and FSH rise in response to GnRH. Upon hMG administration, they exhibited echographic evidence of follicular growth with a clear-cut increase of serum estradiol, which peaked between the 9th and the 16th day from the start of treatment. In two out of three patients in whom a dominant follicle developed, ovulation was induced successfully by hCG injection, as shown by the increase of serum progesterone and by the ultrasonographic demonstration of a corpus luteum. This study has shown that, by proper pharmacological stimulation, the steroidogenic function of the gonads and even ovulation can be reinstated in hypogonadal thalassemic women.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Induction of follicle maturation and ovulation by gonadotropin administration in women with beta-thalassemia. 780 43

With enzyme immunoassay, maternal serum chorionic gonadotropin (MShCG) level was determined in 58 pregnancies affected with fetal homozygous alpha-thalassemia 1. In 40 pregnancies with a gestational age of 10 to 14 weeks, 8 (20%) had an MShCG level above 2.5 multiples of the median (MoM); while in the other 18 pregnancies with a gestational age of 15 to 23 weeks, 14 (78%) had a level above 2.5 MoMs and none had a level below the median. Homozygous alpha-thalassemia 1 of the fetus was associated with an elevated MShCG. Therefore in second-trimester screening for Down's syndrome by measurement of MShCG, homozygous alpha-thalassemia 1 should also be considered if elevated MShCG levels are found.
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PMID:Increased level of second trimester maternal serum chorionic gonadotropin in pregnancy with a fetus affected by homozygous alpha-thalassemia 1. 797 63

To elucidate whether the cause of sexual maturation arrest in thalassaemia is of gonadal or pituitary etiology, 10 males with thalassaemia and delayed puberty and 10 with constitutional delay of growth and pubertal maturation (CSS) were extensively studied. Their spontaneous nocturnal gonadotropin secretion and gonadotropin response to intravenous 100 micrograms gonadotropin-releasing hormone (GnRH) were evaluated. Circulating testosterone concentration and clinical response were evaluated after 3 days, 4 weeks and 6 months of intramuscular administration of human chorionic gonadotropin (HCG) (2500 U/m2/dose). Thalassaemic boys had significantly lower circulating concentrations of testosterone compared to those with constitutional delay of growth and sexual maturation (CSS) at the same pubertal stage. Short- and long-term testosterone response to administrations of HCG was markedly decreased in thalassaemic boys. After 6 months of HCG administration 50 per cent (5/10) of the boys did not show significant testicular enlargement or genital changes. Despite the low circulating concentrations of testosterone, none of the patients had high basal or exaggerated gonadotropin response to gonadotropin releasing hormone (GnRH) stimulation. Luteinizing hormone (LH) peak responses to GnRH were significantly lower as compared to controls. Follicle-stimulating hormone (FSH) peak responses to GnRH did not differ among the two study groups. The mean nocturnal LH and FSH secretion was significantly decreased in all thalassaemic boys as compared to boys with CSS at the same pubertal stage (testicular volume). These data proved that hypogonadotropic hypogonadism is the main cause of delayed/failed puberty in adolescents with thalassaemia major. MRI studies revealed complete empty sella (n = 5), marked diminution of the pituitary size (n = 5), thinning of the pituitary stalk (n = 3) with its posterior displacement (n = 2), and evidence of iron deposition in the pituitary gland and midbrain (n = 8) in thalassaemic patients, denoting a high incidence of structural abnormalities (atrophy) of the pituitary gland. Moreover, in many of the thalassaemic boys, the defective testosterone response to long-term (6 months) HCG therapy denoted significant testicular atrophy and/or failure secondary to siderosis. It appears that testosterone replacement might be superior to HCG therapy in these patients. This therapy should be introduced at the proper time in these hypogonadal patients to induce their sexual development and to support their linear growth spurt and bone mineral accretion.
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PMID:Spontaneous and GnRH-provoked gonadotropin secretion and testosterone response to human chorionic gonadotropin in adolescent boys with thalassaemia major and delayed puberty. 1082 33

To evaluate the impact of thalassemia carrier status on the response to controlled ovarian stimulation (COS) and outcome of intracytoplasmic sperm injection (ICSI). Seventy couples that both carried a mutation attributed to thalassemia (PGD group) and 57 couples in which only the father was a thalassemia carrier (CON group) were enrolled. All female subjects received long protocol GnRH agonist stimulation and received equivalent doses of recombinant follicle-stimulating hormone and the number of retrieved oocytes and utilisable embryos did not differ significantly. The endometrial thickness at human chorionic gonadotropin (hCG) administration day and the number of transferable embryos was lower in the PGD groups. However, pregnancy outcomes, including the clinical pregnancy rate and ongoing pregnancy rate, did not differ significantly between the two groups per cycle. Ovarian response to COS is not impaired by maternal thalassemia carrier status and embryo biopsy did not impair preimplantation embryo development or pregnancy outcomes.
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PMID:Does thalassemia influence ovarian response? An analysis of 127 cycles involving pre-implantation genetic diagnosis of thalassemia in southern China. 2717 14