Endocrine Abstracts

We work in a service at UCLH in London which cares for young people and adults with differences of sex development. Among other diagnoses CAH makes up quite a lot of our cohort of patients. Adolescents with CAH that our team see include those born with atypical genitalia who may have had, or have not had surgery in childhood on their clitoris or vagina. We also see adolescents with CAH who have issues with puberty and their periods. For adolescents with issues with their genit...

An 84-year-old lady with hypertension, bladder cancer, and chronic kidney disease, presented with a 3-day history of diplopia on looking to the right, abnormal eye movements, right-sided peri-orbital headache, and diarrhoea. Clinical examination revealed right-sided sixth cranial nerve palsy with normal pupillary light reaction, visual acuity, and visual fields. There were no other neurological deficits. The patient did not have features of hypercortisolism, GH excess, or adre...

Case history: A 14.5-year-old girl was brought forward by her mother to the paediatric endocrine clinic in view of virilised genitalia, absent breast development and primary amenorrhoea. Her genital appearance had changed gradually throughout childhood though she never disclosed this to her parents. She was otherwise healthy with no significant family history of note. On examination, she had fused labioscrotal folds containing 10–12 ml testis. There was no obvious vaginal...

Introduction: Disorders of sexual differentiation (DSD) are uncommon and pose many challenges to families affected and clinicians. The genotypic 46XY male with female phenotype form an interesting group with diverse presentation. We studied all such children attending our multidisciplinary DSD clinic. Only in a minority of these children did newborn examination raise the possibility of DSD. Delays in identifying these abnormalities can cause significant psychological difficult...