Searchable abstracts of presentations at key conferences in endocrinology
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19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

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20-23 May 2017, Lisbon, Portugal Further information

Eposter Presentations: Reproductive Endocrinology

Clinical case reports - Thyroid/Others

ea0049ep1090 | Clinical case reports - Thyroid/Others | ECE2017

A rare cause of a 46, XY disorder of sex development diagnosed in an adult patient

Feller Katrin , Fluck Christa , Audi Laura , Fernandez-Cancio Monica , Stettler Christoph

The defective conversion of testosterone to dihydrotestosterone due to a steroid 5-alpha-reductase 2 deficiency results in a unique form of 46, XY disorder of sexual development (DSD). Dihydrotestosterone is essential for the embryonic differentiation of the external male genitalia and the prostate. Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder in which genetic males have a predominantly female phenotype with female external genitalia but male inter...

ea0049ep1091 | Clinical case reports - Thyroid/Others | ECE2017

Association of short stature, microcephaly, secondary amenorrhea and consanguinity: clinical case report

Matta-Coelho Claudia , Souto Selma B

Background: In 1985, Mikati et al., described a new syndrome, which included microcephaly, hypergonadotropic hypogonadism, short stature, mental retardation and minor anomalies in four out of nine siblings of consanguineous parents. No genetic disorder was associated to the disease. No further references to this syndrome have been found in literature. The authors present a new possible case of Mikati-Naijjar and Sahli syndrome (MNJS).Clinical case: Forty...