Endocrine Abstracts

A 31-year-old female was referred to Endocrinology clinic for review of her hypergonadotrophic-hypogonadism. She had cleft palate operation at age 3. At age 15y lack of pubertal signs prompted investigations showing XX genotype, FSH:120 IU/L, LH:32 IU/L and low E2. She was started on cyclo-progynova (elsewhere). She has tall stature, span 2.5 cm longer than height, bifid uvula, arachnodactyly with positive ‘wrist sign’, mild scoliosis, pectus excavatum and reduced mu...

Objective: To investigate whether three polymorphisms of the glucocorticoid receptor gene known to influence the sensitivity to glucocorticoids could be implicated in the pathomechanism of Graves’ orbitopathy.Methods: Allelic frequencies of the ER22/23EK, Bcl l and N363S polymorphisms of the glucocorticoid receptor gene were investigated in 99 patients with Graves’ orbitopathy (mean age, 47.8±13.4 years) and in 175 healthy individuals (mea...

Objevtives: Maternal hyperandrogenism occurs rarely during pregnancy as the consequense of maternal ovarian or adrenal disorders, or placental aromatase deficiency.Case: A 33-year-old pregnant women was referred because of high serum testosterone (240 ng/dl; normal, 20–60 ng/dl) measured at the 7th week of pregnancy. At presentation she had symptoms of moderate hyperandrogenism, which slightly increased until delivery. Abdominal and pelvic ultrasoun...

Introduction: Combined pituitary hormone deficiency (CPHD) may be associated with mutations of genes coding for pituitary transcription factors, of which the PROP1 and Pit1, gene mutations have been most extensively studied. However, there are controversial data about the prevalence of these gene mutations in non-acquired childhood-onset CPHD patients.Objectives: To examine the prevalence and spectrum of PROP1 and Pit1 gene mutations in CPHD patients a m...