Endocrine Abstracts

Craniopharyngiomas and pituitary adenomas are the most common benign tumours occupying the pituitary fossa. Neoplastic or infiltrative processes of the pituitary area, such as gliomas arising from the optic chiasm and surrounding region, germ cell tumors from the pituitary stalk, and granulomatous diseases, are less common. Pituitary adenomas are classified according to size, functional status, primary cell origin, and hormone secretion (Prolactin, GH, ACTH, TSH and gonadotrop...

Introduction: SACT are rare in childhood and present with variable signs depending on the type of hormone excess. We describe the unusual presentation of a teenager with SAT presenting with slow progressing puberty.Methods: A pre-menarchal 13.5 years old girl with high BMI (28 kg/m2) presented with slow progressing puberty. She started her puberty at least 3 years previously with breast changes, then progressed to develop pubic and axillary ha...

Thyroid hormone is absolutely necessary for early brain development. Incidence of thyroid disorders in infancy is 1:4,000. Thyroid hormones can be deficient through hormone synthesis and action or very rarely through defective transport. Some new and exciting transporters for tri-iodothyronine (T3) have recently come to light. MCT 8 gene encodes the protein that transports T3 into neurons. Its mutation result in inability of T3 to enter a devel...

Background: About one in 3000 babies born in the UK have congenital hypothyroidism (CHT), which is usually due to an agenesis of the thyroid gland, but some are due to dyshormogenesis, which can be transient or permanent.Method: Retrospective analysis of medical notes of infants referred as ‘suspect’ congenital hypothyroidism from the newborn blood spot screening centre to the paediatric endocrinology service at our hospital from January 2002 t...

Thyroid hormone is absolutely necessary for early brain development.Incidence of thyroid disorders in infancy is 1:4,000.Thyroid hormones can be deficient through hormone synthesis and action or very rarely through defective transport. Some new and exciting transporters for tri-iodothyronine (T3) have recently come to light.MCT 8 gene encodes the protein that transports T3 into neurons. Its mutation result in inability of T3 to enter a developi...

Medullary thyroid cancer (MTC) is a rare malignancy of the thyroid gland. MTCs originate from thyroid-C cells and account for 2-4% of all thyroid neoplasms. Originating from thyroid-C cells, the main secretory product of MTCs is calcitonin, used as sensitive and specific MTC-biomarker. Calcitonin is a hormone known to participate in calcium-bone metabolism suppressing bone-resorption by inhibiting the activity of osteoclasts, and inhibiting the kidney reabsorption of calcium a...

GH deficiency (GHD) negatively influences cardiovascular function directly by impairing cardiac filling, performance, and contractility and indirectly by inducing atherosclerotic changes, hypercoagulability, abdominal obesity, insulin resistance, dislipidemia, endothelial dysfunction, etc. This accounts for the reduced life expectancy and increased risk of death for vascular disease in these patients.CFR represents the capacity of the coronary circulatio...

The nuclear receptor steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a key regulator of adrenal and gonadal development, steroidogenesis and reproduction, and targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal and persistent Müllerian structures in males. Consistent with this phenotype, DNA-binding mutations in SF1 have been reported in two 46,XY female patients with primary adrenal failure and uterine s...

Introduction: Timing, extent, complications rate and long term results of paediatric prophylactic thyroidectomy (pPT) for MEN2 in the UK are unknown.Methods: All UK centers performing pPT were invited to participate in the study.Data were obtained from notes and hospitals electronic databases.Results: Fifty-one children (27 males) were included.All had genetic test at the mean age of 5 years (median 3, range 0.25–15), confirmi...

Background and Demographics: Medullary thyroid carcinoma (MTC), in the context of Multiple Endocrine Neoplasia type 2 (MEN2), is caused by mutations in the RET proto-oncogene. For children with MEN2, both 2A and 2B subtypes, and advanced MTC, the RET tyrosine kinase (TK) pathway is a target for treatment with selpercatinib, a selective RET TK inhibitor (TKI). In the United Kingdom, 7 paediatric patients have been receiving named -patient, compassionate access ...