hrp0082p3-d3-805 | Gonads and Gynaecology | ESPE2014

The Genotypic and Phenotypic Variability of Mixed Gonadal Dysgenesis

Grimbly Chelsey , Couch Robert , Girgis Rose

Background: Mixed gonadal dysgenesis is most commonly associated with 45,XO/46,XY karyotype.Objective and hypotheses: We report three cases that illustrate the genotype and phenotype variability of mixed gonadal dysgenesis.Methods: Data was extracted from Pediatric Endocrinology charts in a tertiary care centre after consenting the parents.Results: i) A 13 year old patient, 45,XO/46,X, isodicentric Y chromoso...

hrp0082p1-d1-238 | Thyroid | ESPE2014

Homozygous Deletion of The TSHβ Subunit Gene Causes Congenital Secondary Hypothyroidism in a Consanguineous Family of Turkish Descent

Hermanns Pia , Klotz Cherize , Couch Robert , Leonard Norma , Pohlenz Joachim

Background: A 6-week-old male was admitted for investigation of prolonged jaundice. The pregnancy was unremarkable with a normal at term delivery. The neonatal screening was unremarkable. The boy was born to consanguineous parents of Turkish descent.Objective and hypotheses: At presentation serum levels of thyrotropin, T4 and T3 were low and prolactin slightly elevated. Venous TSH was undetectable low. Central hypothyroidism was dia...