Endocrine Abstracts

Introduction: Selective transsphenoidal microadenomectomy (TSS) is the first-line treatment of paediatric Cushing’s disease (CD). Corticotroph adenomas in children are often small and difficult to visualize. We aimed to assess the utility of pituitary MRI and bilateral inferior petrosal sinus sampling (BIPSS) in confirming the diagnosis of CD and the localisation of the adenoma. We also report our early experience of STEALTH MRI (volumetric T1 weighted, contrast-enhanced ...

Heterozygous mutations in GNAS1, which encodes the Gαs protein involved in multiple signalling pathways, are classically associated with Albright’s Hereditary Osteodystrophy (AHO). GNAS1 is one of few genetic loci that undergo allelic-specific methylation resulting in the parent-specific expression of at least four different transcripts. The classic constellation of phenotypic features includes short stature, round face, brachydactyly, obesity, dental hypopl...

Triple A syndrome (AAAS), a rare and debilitating autosomal recessive disorder. It is characterised by adrenal failure, alacrima and achalasia; ~70% patients develop a neurodegeneration. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for the selective nuclear import of DNA protective molecules and is important for cellular redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic...

Short stature and osteoporosis are common in DMD. Glucocorticoids slow disease progression but are associated with further growth retardation and skeletal fragility. The muscular dystrophy x-linked (mdx) mouse is the most commonly used animal model of DMD. However, the phenotype is relatively mild and few medications that have shown therapeutic benefit in the mdx have translated clinically. The utrophin heterozygous mdx mice might be more appropriate...

Introduction: The uterus develops during puberty and increases not only in length but also in width and depth, to achieve a mature shape. Pubertal induction with exogenous oestradiol aims to mimic this. Research to date shows variable results for the attainment of an adult uterine configuration in females with hypogonadism. Suboptimal uterine development is hypothesised to be a contributing factor for adverse reproductive outcomes in females with hypogonadism undergoing egg do...

Objectives: Patients with homozygous 6Ψ mutations have GH insensitivity (GHI). We previously described spectrum of clinical and biochemical phenotypes of 11 6Ψ patients (David et al. JCEM 2007;92:655) and now report 9 additional patients. Response to rhIGF-I therapy has not previously been assessed.Methods: 20 6Ψ patients (12 M, 11 families, mean age 4.0±2.2 year) were diagnosed genetically in our centre. Continuous ...

Introduction: Rare genetic overgrowth disorders are a group of conditions characterised by height and/or head circumference >2 S.D. above the mean for age and sex, learning disability, congenital anomalies, and in some cases childhood tumours. POD is a national cohort study that includes a next generation sequencing (NGS) panel of overgrowth genes. We present a new model for clinical confirmation of pathogenic variants identified by this research panel. Clin...

Introduction: Isolated congenital central hypothyroidism (CeCH) is a rare entity associated with mutations in IGSF1, TSHB, TRHR, or the coding region of TBL1X. We describe a female with CeCH and extrathyroidal features due to a partial X-chromosomal deletion involving TBL1X and other genes. Further studies showed markedly reduced TBL1X expression in patient-derived leukocytes and enabled linkage of particular clinical phenotypes to ...

Background: Familial male-limited precocious puberty (FMPP) or ‘testotoxicosis’ is a rare form of gonadotrophin-independent precocious puberty. There is a paucity of data on final adult height in these patients and no consensus on what constitutes appropriate treatment. Our aim was to assess the management and final height of patients with FMPP under our care as well as those reported in the literature.Methods: Growth data were obtained from no...