Forty five case of Turner syndrome diagnosed in the Genetics Clinic, between January 1986 and December 1993, were analyzed. The most commonly observed karyotype was 45, X (44.4%), followed by 45, X/46, XX mosaicism (24.4%). Less frequently demonstrated karyotypes were 45, X/46, X, i (Xq) mosaicism and 46, X, i (Xq) (13.3%). Mosaicism for chromosome was seen in 6.7% of patients. Patients with 45...

Amenorrhea is the absence or abnormal cessation of the menses (1). Primary and secondary amenorrhea describe the occurrence of amenorrhea before and after menarche, respectively. The majority of the causes of primary and secondary amenorrhea are similar. Timing of the evaluation of primary amenorrhea recognizes the trend to earlier age at menarche and is therefore indicated when there has been ...

Of 410 cases of spontaneous or induced abortion in the first or second trimester that were followed up, 95 were infertile. 18 of these had amenorrhea and 12 had oligomenorrhea. Amenorrhea and oligorrhea were more prevalent among the women who were over 31. Amenorrhea, oligomenorrhea, and infertility were more frequent after spontaneous than after induced abortion. Asymptomatic tubal block r...

OBJECTIVE To report a novel single nucleotide insertion mutation, and present the clinical, genetic, biochemical findings in a patient with primary amenorrhea. METHODS Chromosomal analysis was performed by harvesting lymphocytes from peripheral blood sample. Hormonal analysis was performed from the serum. After genomic DNA extraction from peripheral blood leukocytes the coding regions and cor...

BACKGROUND Primary ovarian insufficiency (POI) is characterized by 4 to 6 months of amenorrhea and elevated serum FSH and LH in females less than 40 years. Ovarian insufficiency is uncommon in pediatrics and typically results from a chromosomal abnormality or treatment for malignancy. Idiopathic POI in which no apparent precipitant is identified is even rarer. After encountering three teens wit...

(Shelling, 2000). Of interest is the lower copy number detection rate in our study (4%) compared with the detection rate of 48% in the recent publication by Quilter et al. (2010). Quilter et al. report that one of the 15 women with a CNV had primary amenorrhea. Possibilities to explain the differences in detection rate compared with this study may be differences in the age of onset of POF, or t...

OBJECTIVE To analyze DNA from women with premature ovarian failure (POF) for genome-wide copy-number variations (CNVs), focusing on novel autosomal microdeletions. DESIGN Case-control genetic association study. SETTING Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas. PATIENT(S) Of 89 POF patients, eight experienced primary amenorrhea and 81 exhibited se...

Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to n...

background: luteinizing hormone (lh) was secreted by the stimulating cells of the testes and ovaries in the anterior pituitary gland. the application of this hormone is in the treatment of men and women with infertility and amenorrhea respectively. m aterials and methods: in the present study the alpha and beta subunits of human lh gene were cloned into the pegfp-n1 expression vector and produc...

A thorough history and physical examination as well as laboratory testing can help narrow the differential diagnosis of amenorrhea. In patients with primary amenorrhea, the presence or absence of sexual development should direct the evaluation. Constitutional delay of growth and puberty commonly causes primary amenorrhea in patients with no sexual development. If the patient has normal pubertal...