Endocrine Abstracts

Thyrotoxicosis is uncommon in young people with a UK incidence around 1/100 000 (<15 years). Most cases of persistent thyroid hormone excess are due to Graves’ disease although transient episodes are seen in Hashimoto’s thyroiditis. Thyroid peroxidase antibodies can frequently be identified in both forms of autoimmune thyroid disease with antibodies to the TSH receptor more typical of Graves’. Patients with Graves’ are usually managed initially with the...

The pubertal growth spurt involves a rapid increase then decrease in height velocity (HV), where both the timing and intensity of the spurt vary considerably between individuals. The analysis of such growth curve data is an ongoing statistical problem. Current approaches involve fitting say the Preece–Baines (PB) curve to each individual’s data, and summarising the curves by averaging the five fitted PB parameters across individuals. But this has two drawbacks: fitti...

Polycystic ovarian syndrome (PCOS) is one of the commonest endocrine disorders of young women, and the commonest cause of reduced fertility in this age group. There are fundamental metabolic disturbances integral to the syndrome that lead to significant cardiovascular risk, and these include obesity, insulin resistance, beta cell dysfunction, impaired glucose tolerance and type 2 diabetes, dyslipidemia, hypertension, obstructive sleep apnoea, a pro-coagulant state, and endothe...

The song ‘Money makes the world go round’ could have been written for biological scientists, because it is hard to conceive of a research project in endocrinology that could proceed without many thousands of pounds in funding. This means that a key skill for career scientists is the ability to write successful research grants. Despite government assurances of increased budgets for scientific research, the reality is that within the environment of responsive mode gran...

The osteoclast is the cell that resorbs bone. Excessive activity by this cell is responsible for the bone loss that causes osteoporosis. Resorptive activity also appears to provide a ‘soil’ suitable for tumour metastasis to bone. Osteoclasts derive from precursors shared with the mononuclear phagocyte system, which differentiate into osteoclasts under the direction of M-CSF and RANKL. In vitro at least, TFG-beta is an essential cofactor for this process, and i...

Introduction: The male child with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency classically presents with salt-wasting and the female with genital ambiguity. 17-OHP measurement is a key investigation but the assay takes time to perform and is not usually available at weekends. We have examined the role of renal/adrenal ultrasonography in the above clinical scenarios.Method: An abdominal ultrasound focussing on adrenal anatomy was ...

Introduction: Thyroid nodules in children are more often malignant than in adult practice (~26 vs 5–10%) and in our locality the incidence of thyroid cancer in young people is increasing. We therefore assessed the presentation, investigation, histology and management of paediatric patients presenting with thyroid nodules.Methods: This was a retrospective audit conducted at a regional unit (catchment population ~3 million) where young people are like...

17β-hydroxysteroid dehydrogenase deficiency (17β-HSD) is a rare autosomal recessive disorder of sexual development affecting testosterone biosynthesis. Affected individual typically present with genital ambiguity at birth, inguinal gonads or excessive virilisation at puberty in a phenotypic female.Case: We present a case of a 14-year-old girl who was referred by the GP because of concerns about upper lip hair growth and deepening of her voice. ...

Neonatal Diabetes Mellitus (NDM) occurs in the neonatal period and has a very high burden of morbidity and mortality. The incidence is approximately 1:100,000 but reports range from between 1 in 25,000 to 1:500,000 live births. A genetic cause can be found in over 80% of cases. At present, patients with NDM are unrecognised as being seriously ill until hyperglycaemia is at a life-threatening level. An effective method for measuring blood glucose concentrations from Guthrie car...

Gonadotropin-releasing hormone analogues (GnRHa) are prescribed to adolescents with gender dysphoria under age 15 who have reached Tanner stage 2/3 to prevent progression through puberty and allow them time to consider their gender identity. The possible effects of the therapy on the pubertal growth spurt are poorly understood. A height more congruent with their identified gender is desired by transgender individuals, thus it is crucial that they are fully informed of its pote...