Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency

Vasiliki Koika, Anastasia K. Armeni, Neoklis A. Georgopoulos

Download PDF

CASE PRESENTATION: A 36-year old man, operated on for cryptorchidism at the age of 8 years, was referred to the Outpatient Clinic of Reproductive Endocrinology for investigation of infertility. Clinical examination revealed ambiguous genitalia: penis 4-5 cm, testicular volume 2-3 ml, hypospadias, hypertrophic foreskin and scrotum bifida. Mild hypertension was confirmed. No skeletal malformations were detected …

Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia

Anastasia P. Athanasoulia, Günter K. Stalla, Matthias K. Auer

Download PDF

BACKGROUND: Leydig cell hypoplasia is a rare autosomal recessive condition that interferes with the normal development of male external genitalia in 46,XY individuals. It is mediated by mutations in the lutropin/choriogonadotropin receptor gene, resulting in the impairment of either the binding of hormone or signal transduction …

Hermaphroditism: an obsolete diagnosis?

Anastasios Tranoulis, Lina Michala

Download PDF

Our aim was to assess to what extent the traditional term ‘hermaphrodite’ is still in use to describe ‘disorders of sex development’ (DSD) as per the terminology recommended by the 2006 Chicago Consensus Statement. For this purpose we systematically searched Pubmed and Scopus using the keywords hermaphroditism, hermaphrodite, pseudohermaphrodite, pseudohermaphroditism and intersex in the title and abstract …