Endocrine Abstracts

The variability in the manifestation of DSD covers a spectrum ranging from normal external female and male phenotypes to ambiguous genitalia. The latter scenario represents the sino qua non of DSD and poses a fundamental problem at birth – the inability to sex assign instantaneously. The typical newborn phenotype is represented by the ambiguity of a small penis/enlarged clitoris, labioscrotal folds, a single perineal orifice and gonads which may, or may not, be pal...

Despite recent enormous advances in the understanding of the molecular mechanisms of sex development, the medical decisions made in patients with disorders of sex development (DSD) are mostly lacking evidence-based principles and are carried on case by case evaluations. Very critical discussions have focused on approaches on gender assignment and treatment of DSD. Any decision should be based on a correct diagnosis and possible prediction of development during puberty and adul...

Women with a 46XY karyotype comprise a heterogeneous group who differ not only in their diagnostic category and anatomy but also in their journey from paediatric to adult services. Transition care should be an individualised process covering past experiences, current medical and surgical needs and future prospects is required for optimal wellbeing. A multidisciplinary team is helpful in providing this care and liaison with supports groups (for instance the AISSG) is essential ...

It is now around 20 years since the identification of SRY as a primary testis-determining gene and the molecular characterisation of many of the key enzymes and receptors involved in androgen synthesis and action. Although significant progress has been made since then in identifying other components involved in sex development, we are still unable to find an underlying genetic cause in many individuals with these conditions. Efforts to identify specific genetic causes o...