Endocrine Abstracts

Ubiquitous in nature, cilia and flagella comprise near identical structures with similar functions. The most obvious example of the latter is motility; driving movement of the organism or particle flow across the epithelial surface in fixed structures. In vertebrates, such motile cilia are evident in the respiratory epithelia, ependyma and oviducts. For over a century, non-motile cilia have been observed on the surface of most vertebrate cells but until recently their function...

Background: Bardet Biedl syndrome (BBS) is a rare autosomal recessive disorder caused by ciliary dysfunction. It is characterised by rod cone dystrophy, polydactyly, renal dysfunction, cognitive impairment. Endocrine consequences are thought to include hypogonadism, obesity and polyuria. However little is known about the endocrine and metabolic abnormalities in adult patients.Methods: One hundred and fifty-four patients with BBS were identified through t...

The adrenogonadal primordium develops from a thickening of the coelomic epithelium covering the urogenital ridge. After segregation of the primordium into the bipotential gonad and the adrenocortical primordium, the cortex is encapsulated by mesenchymal cells and infiltrated by migrating sympathoadrenal cells, which form the medulla. We have shown that the cell fate regulator sonic hedgehog (Shh) is not required for the formation of the adrenocortical primordium but is require...

Introduction: Bardet-Biedl Syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000–160,000, caused by mutations across >20 known genes encoding for proteins responsible for primary cilium/basal body complex integrity. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been reported; howe...

Introduction: Mutations affecting hypothalamic development in humans have been identified in genes that affect isolated domains of hypothalamic function leading to restricted phenotypes, such as obesity or hypogonadotrophic hypogonadism. We describe the first human cases of diabetes insipidus and combined pituitary hormone deficiency due to a mutation in a gene regulating hypothalamic development.Results: Six affected individuals from a highly consanguin...

Introduction: Bardet-Biedl syndrome (BBS) is a rare disorder. It is an autosomal recessive hereditary ciliopathy, including: Multivisceral impairment, associated with obesity, learning disabilities, with or without intellectual deficit. We report the observation of 2 patients followed in our training for morbid obesity.Case Report: Case 1: O. Y. 17 years old, from a non-consanguineous marriage. Admitted for management of morbid obesity, BMI=70 kg/m2...

Background: Bardet–Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. This ciliopathy is characterized by rod–cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism [1]. It was first described by Bardet [2] in 1920 and then by Biedl [3] in 1922. Its prevalence in Europe and North America is 1:100 000 [4]. The incidence o...

Introduction: Bardet-Biedl syndrome (BBS) is an autosomal recessive, monogenic syndrome of obesity, with an estimated prevalence of 1:160.000. BBS is caused by mutations in one of the twenty-six genes that play a role in the function of primary cilia (1). Early-onset obesity, post-axial polydactyly, retinitis pigmentosa, renal or genitourinary abnormalities, learning disabilities and hypogonadism are considered primary features. Diabetes, speech deficit, heari...