Sandra P T Tho

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A series of 262 patients with amenorrhea of adult onset are reported. Hypothalamic suppression followed by inappropriate positive feedback, and then hyperprolactinemia and ovarian failure are the most frequently encountered etiologies. Other etiologies are diverse and numerically less frequent. Amenorrhea after use of oral contraceptives, or postpill(More)
OBJECTIVE To characterize the phenotype of idiopathic hypogonadotropic hypogonadism due to compound heterozygous GnRHR gene mutations (Arg262Gln/Tyr284Cys). DESIGN Retrospective review. SETTING Tertiary medical center. PATIENT(S) Family containing four siblings (three female and one male) with complete idiopathic hypogonadotropic hypogonadism. (More)
OBJECTIVE To determine whether mutations in the gene for FSH beta are present, and possibly etiologic, in some patients with 46,XX premature ovarian failure (POF). DESIGN DNA samples obtained from 18 study patients with POF and two menopausal fertile controls were studied by Southern blot analysis. DNA sequencing was performed in one patient. SETTING(More)
Normal male and female sexual differentiation begins with gametogenesis. Both male and female sexual differentiation follow a timetable of events with predictable development of the gonads, internal genital ducts, and the external genitalia. Completed sexual maturation occurs during the pubertal years. Abnormalities of sexual differentiation may occur at(More)
OBJECTIVE To report a case of ovarian cyst formation and myxedematous infiltration of the ovary in a subject with primary hypothyroidism. DESIGN Retrospective case report. SETTING University hospital. PATIENT(S) A 16-year-old female adolescent with pelvic pain, galactorrhea, irregular menses, and ovarian cysts on pelvic examination. INTERVENTION(S)(More)
Four experiments evaluated the sensitivity and specificity of molecular techniques to detect human Y chromosome deoxyribonucleic acid. In experiment I, electrophoretic separation of normal male deoxyribonucleic acid fragments after digestion with endonuclease Hae III revealed two male-specific bands of 3.4 and 2.1 kilobase (kb). These bands were not visible(More)
CONTEXT Kallmann syndrome (KS) consists of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia/hyposmia. Currently, the fibroblast growth factor receptor 1 (FGFR1) gene is the only known autosomal dominant cause of KS, which is also associated with synkinesia, midfacial defects, and dental agenesis. OBJECTIVE Mutations in FGFR1 typically(More)
OBJECTIVE To characterize the phenotypic spectrum of males with bilaterally descended testes and a 45,X/46,X,(r)Y karyotype. DESIGN Retrospective review of patient records; cytogenetic and molecular analysis. SETTING Tertiary medical center setting. PARTICIPANT(S) Five males, two prepubertal and three postpubertal, with a 45,X/46,X(r)Y karyotype and(More)
Subjects with 46,XY gonadal dysgenesis (Swyer syndrome) have a distinctive phenotype. They are normal or tall in stature, lack somatic anomalies, and possess bilateral rudimentary gonads. Critical Yp deletions have been described in some cases, but in the majority no defects at the molecular level have been reported. To verify the presence or absence of(More)