menotropins and Abnormalities--Multiple

Maternal uniparental disomy (UPD) for chromosome 14 [upd(14)mat] may cause a characteristic phenotype with growth and developmental deficiency and precocious puberty. We report the case of a Japanese infant with an isochromosome 14 [i(14q)] and intrauterine growth retardation (IUGR). The infant is one of triplets comprising a boy (the patient) and two karyotypically normal girls. We analyzed parent-child transmission modes of alleles on the i(14q) at 17 CA-repeat marker loci along the entire length of chromosome 14. Genotypes at 4 proximal and 5 distal loci on the i(14q) were consistent with maternal isodisomy, whereas those at an intervening region indicated maternal heterodisomy. Thus, the derivative chromosome 14 had arisen through a translocation between maternal homologous chromosomes 14 [t(14;14)(p10;q10)] after at least two crossing-over events at the first meiosis. This result also suggests that there must be maternally imprinted gene(s) on 14q, and that loss of the functionally active, paternally derived allele in the same locus may lead to IUGR. Alternatively, IUGR may be an autosomal recessive trait. In the latter case, the mother would be a heterozygote and the putative disease locus would be either at the most proximal or most distal region of 14q.

Topics: Abnormalities, Multiple; Abortion, Habitual; Adult; Alleles; Chorionic Gonadotropin; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 14; Crossing Over, Genetic; Dinucleotide Repeats; Female; Fetal Growth Retardation; Genetic Markers; Genomic Imprinting; Growth Disorders; Humans; Immunotherapy; Infant, Newborn; Karyotyping; Male; Menotropins; Ovulation Induction; Pregnancy; Translocation, Genetic; Triplets

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.

Topics: Abnormalities, Multiple; Adolescent; Anus, Imperforate; Chorionic Gonadotropin; Chromosomes, Human, Pair 22; Dwarfism, Pituitary; Humans; Hypogonadism; Hypopituitarism; Male; Menotropins; Pituitary Hormones; Puberty, Delayed; Syndrome; Testosterone; Trisomy

Report of radiologic and hormonal results of a patient with typical stigmata of the Aarskog-syndrome. X-Ray findings are not been found to give diagnostic clues, whereas the hormonal findings are considered specific-typical: FSH and LH levels prior to orchidopexy are in a range are as seen with hypergonadotropic hypogonadism. One year after the orchidopexy LH values were found to be normal, the FSH again showed increased titer. The growth hormones concentrations are normal but Somatomedin-activity is decreased.

Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Child, Preschool; Cryptorchidism; Humans; Luteinizing Hormone; Male; Menotropins; Postoperative Period; Radiography; Somatomedins; Syndrome

Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Adult; Amenorrhea; Down Syndrome; Drug Evaluation; Female; Follow-Up Studies; Humans; Infant, Newborn; Infertility, Female; Menotropins; Ovulation; Pregnancy; Triplets; Twins