ESPE Abstracts

Monogenic autoimmune diabetes results from a single highly penetrant mutation that causes autoimmunity leading to destruction of the beta-cells. Identifying monogenic autoimmune diabetes can be a challenge; early-onset type 1 diabetes (T1D) can cluster with additional autoimmune diseases due to shared polygenic risk, particularly from the HLA DR3 and DR4 alleles, and islet and other organ specific autoantibodies are present in patients with both monogenic and polygenic aetiolo...

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Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. Misclassification of all diabetes types may occur and healthcare providers should be aware of this possibility. A systematic approach to subjects who are newly diagnosed with diabetes can assist classification of common forms of diabetes and identify those in whom molecular investigation would be advantageo...

Double diabetes (DD) is a term coined to describe individuals with evidence of islet-cell autoimmunity (type 1 diabetes: T1D) and showing obesity and insulin resistance (type 2 diabetes: T2D). The rising obesity trend that favors insulin resistance seems have a role, in association with other environmental factors, for the development of islet-cell autoimmunity through different mechanism. It has become apparent that more youth with T1D are overweight or even obese before hype...

There are modifiable and unmodifiable risk factors for youth type 2 diabetes (T2DM). Unmodifiable risk factors include genetics/epigenetics, minority race/ethnicity, and puberty. The major modifiable risk factors for youth T2DM are obesity and lifestyle habits of excess nutritional intake and decreased energy expenditure. Thus, in making a clinical diagnosis of T2DM, the major diagnostic criterion, at least in North America and Europe, is overweight/obesity. However, with the ...

Sex is one of the strongest biological factors influencing neural development, and yet our understanding of the molecular underpinnings of sexual differentiation is only just beginning. Just like the bipotential gonads, which only differentiate upon expression of SRY in XY males, the brain is also bipotential and differentiates due to a combination of genetic, epigenetic, environmental, and hormonal exposures. A period of testosterone production by the testes, which occurs as ...

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Magnetic resonance imaging (MRI) of the brain in disorders of sexual development (DSD) is still relatively scarce despite the opportunities it offers for understanding the influence of sex hormones on emotion and cognition. In this talk I will give an update on current structural and functional MRI research in different DSDs such as Klinefelter syndrome, Turner syndrome, Congenital Adrenal Hyperplasia, or Familial Male Precocious Puberty. Finally, parallels will be drawn to cu...

Defects in the specification, migration and/or function of Gonadotropin-releasing hormone (GnRH) neurons gonadotropin-releasing hormone result in Kallmann Syndrome (KS), a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia (lack of sense of smell). To identify new molecular causes of KS, we performed a systematic genetic interrogation via whole exome sequencing of KS families. Autosomal dominant loss-of-function mutations in TCF12, a transcription...

GnRH–secreting neurons are unusual neuroendocrine cells, as they originate in the nasal placode outside the central nervous system during embryonic development, and migrate to the hypothalamus along the vomeronasal and terminal nerves. Postnatally these cells become integral members of the hypothalamic-pituitary-gonadal axis and they regulate puberty onset and reproduction through the release of GnRH into the pituitary portal blood vessels for delivery to the anterior pit...