Genetics in endocrinology: approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU …

L Audi, SF Ahmed, N Krone, M Cools… - European Journal of …, 2018 - academic.oup.com
The differential diagnosis of differences or disorders of sex development (DSD) belongs to
the most complex fields in medicine. It requires a multidisciplinary team conducting a …

Management of 46, XY differences/disorders of sex development (DSD) throughout life

AB Wisniewski, RL Batista, EMF Costa… - Endocrine …, 2019 - academic.oup.com
Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions that result in discordance between an individual's sex chromosomes, gonads …

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

SF Ahmed, J Achermann, J Alderson… - Clinical …, 2021 - Wiley Online Library
It is paramount that any child or adolescent with a suspected difference or disorder of sex
development (DSD) is assessed by an experienced clinician with adequate knowledge …

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN …

A Nordenström, SF Ahmed… - European journal of …, 2022 - academic.oup.com
Abstract An Endo-European Reference Network guideline initiative was launched including
16 clinicians experienced in endocrinology, pediatric and adult and 2 patient …

Vascular dysfunction and increased cardiovascular risk in hypospadias

AK Lucas-Herald, AC Montezano… - European heart …, 2022 - academic.oup.com
Aims Hypogonadism is associated with cardiovascular disease. However, the
cardiovascular impact of hypogonadism during development is unknown. Using …

Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study

R Naamneh Elzenaty… - The Journal of …, 2024 - academic.oup.com
Abstract Context Steroidogenic factor 1 (NR5A1/SF-1) is a nuclear receptor that regulates
sex development, steroidogenesis, and reproduction. Genetic variants in NR5A1/SF-1 are …

Establishing a molecular genetic diagnosis in children with differences of sex development: a clinical approach

MA O'Connell, G Atlas, K Ayers, A Sinclair - Hormone Research in …, 2023 - karger.com
Background: Despite distinct underlying aetiologies, the clinical phenotypes and hormonal
profiles of children with various differences of sex development (DSD) are often similar …

The use of genetics for reaching a diagnosis in XY DSD

SF Ahmed, M Alimusina, RL Batista, S Domenice… - Sexual …, 2022 - karger.com
Reaching a firm diagnosis is vital for the long-term management of a patient with a
difference or disorder of sex development (DSD). This is especially the case in XY DSD …

The role of international databases in understanding the aetiology and consequences of differences/disorders of sex development

SR Ali, A Lucas-Herald, J Bryce, SF Ahmed - International Journal of …, 2019 - mdpi.com
The International Disorders of Sex Development (I-DSD) and International Congenital
Adrenal Hyperplasia registry (I-CAH) Registries were originally developed over 10 years …

A systematic review of core outcomes for hypospadias surgery

TL Leunbach, S O''Toole, A Springer… - Sexual …, 2020 - karger.com
Although the outcome of hypospadias surgery requires careful scrutiny, there is little
consensus on what clinical outcome parameters should be considered essential as part of …