ESPE Abstracts

Introduction: The influence of sex chromosomes and sex hormones on early human brain development is still poorly understood. Expression of Y chromosome genes may influence aspects of brain maturation in the 46,XY fetus, but the contribution of different Y genes is unknown. Furthermore, a marked increase in testicular testosterone biosynthesis/release from the testis occurs at around 8 weeks post conception (wpc) in the 46,XY fetus, but it is unclear whether te...

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

Background: The adrenal glands and gonads develop from an area of intermediate mesoderm between 6 and 10 weeks post conception (wpc) in humans. Elucidating the genomic components and pathways in these processes could reveal novel aspects of human developmental biology and new factors implicated in adrenal insufficiency and DSD.Objective and hypotheses: To develop a unique genomic atlas of adrenal and gonad development during critical stages of human embr...

Background: Disorders of sex development (DSD) comprises a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo. Imaging is a very useful tool in assessing the patient’s phenotypic sex through identifying the internal genital anatomy and the adrenal glands. Ultrasonography is a cheap and readily available tool. MRI has disadvantage of being expensive with long waiting lists especially in developin...

It has been recognized for over 20 years that there is an association between patterns of early growth and long-term risk of traditionally adult onset diseases such as type 2 diabetes. This has been observed both in human epidemiological studies and in animal models. This led to the concept of the developmental origins of health and disease that suggests that the environment to which an individual is exposed during critical periods of development, such as the in utero...

Introduction: The human adrenal gland originates from the adrenogonadal primordium at around 4 weeks post conception (wpc) and undergoes marked developmental changes throughout the first half of pregnancy. Several key aspects of adrenal maturation are well-established, such as the formation of a large inner fetal zone (FZ) and synthesis of dehydroepiandrosterone, but many other processes contributing to adrenal gland development and function in humans are stil...

Germ cell tumors (GCTs) comprise a heterogeneous group of neoplasms. The WHO classification 2016 recognizes three types of testicular GCTs, including the GCNIS-related (Germ Cell Neoplasia In Situ) GCTs, being the malignant seminomas and nonseminomas. They originate from a totipotent embryonic germ cell. GCNIS, seminoma and embryonal carcinoma, are characterized by the pluripotency marker OCT3/4 (POU5F1). Seminomas (and GCNIS) are positive for SOX17 and embryonal carcinomas fo...

Expansion of the skull vault to accommodate the growing brain is driven primarily by growth at cranial sutures. These are fibrous joints between the flat bones of the skull that translate growth pressure from the brain into a balanced proliferation and differentiation of cells of the osteoblast lineage. This process is sensitive to environmental and genetic insults and premature fusion of one or more sutures, termed craniosynostosis is a common (~1 in 2000), and serious cranio...

Background: Accumulation of fat mass in the development of obesity may result from hypertrophy and/or hyperplasia and is frequently associated with adipose tissue (AT) dysfunction in adults. However, the onset and mechanisms of AT dysfunction are not entirely understood.Objective and hypotheses: We assessed composition, function, lipolysis, and inflammation in 171 AT samples from lean and obese children and adolescents (aged 0 – 18 years) to evaluat...

There is now considerable epidemiological and experimental evidence indicating that early life environmental signals, including nutrition, affect subsequent development. It is now quite clear that a relationship exists between the periconceptional, fetal and early infant phases of life and the subsequent development of chronic diseases including obesity and type 2 diabetes. This relationship, the ‘developmental origins of health and disease’ (DOHaD), suggests that th...