Endocrine Abstracts

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a 46,XX DSD condition associated with typical pubertal development, primary amenorrhea (absent uterus) associated with agenesis of the cervix and upper third of the vagina. Following diagnosis, optimal care strategy is unclear.Objective: Evaluate i) input required from the DSD MDT ii) establish main care requirements iii) review interventions typically accessed via the specialist DSD cl...

Background: To aid assessment of parent-reported outcomes (PRO) in the routine clinical setting in young children with any condition affecting sex development, a short questionnaire (PRO-CSD) that includes a parent-proxy report (PPR) and a parent-self-report measure (PSR) has been recently developed and requires further validation.Methods: Parents of 98 boys with a median age of 2.9 yrs (range, 0.2,6.5) and a median external masculinisation score (EMS) o...

Objectives: Klinefelter syndrome (XXY) has a wide range of presentations and health consequences. The aim of this systematic review was to identify the core outcomes reported in males with XXY.Methods: Systematic searches of PubMed, Science Direct, and Cochrane were performed to source studies. The inclusion criteria were studies involving KS males with any intervention, comparison, or outcome, with separate searches for studies reporting on children &#6...

Introduction : Accidental exposure to transdermal hormone-containing products can cause significant adverse effects in children. Hormone replacement therapy (HRT) is widely used in both women and men. Transdermal administration of oestrogen- or testosterone-containing products via transdermal patch, gel, sprays or creams are increasingly used. The MHRA (2023) and FDA (2009) warned of the risk of harm to children following accidental exposure to topical testosterone gel. We rep...

Advances in DNA sequencing technology have provided insights into the genomic architecture of rare disorders, including DSDs. Genomic testing in clinical setting is now accessible for NHS patients, and we present a series of examples from our regional DSD service of patients and families highlighting the complexity in this field and the role of a clinical geneticist in the diagnostic pathway. A 3.5-year-old girl with clinical diagnosis and family history of CAIS had analysis o...

Introduction: Biallelic loss of function of the 5α-reductase 2 enzyme, with impaired conversion of testosterone to dihydrotestosterone, is associated with undervirilisation in 46 XY DSD. We identified 5 individuals with 5α-reductase 2 deficiency (5ARD), disease varying from mild to severe.Patients: 1. 2 Turkish siblings, with microphallus and coronal/glanular hypospadias (External masculinisation score (EMS) 8) had 3-day HCG and urine steroid p...