Endocrine Abstracts

Background: Using small for gestational age (SGA) as a marker for fetal growth restriction (FGR), studies link an adverse intrauterine environment to cardiometabolic risk markers in childhood. Focusing on 3–6 year old children, where the majority were born following pregnancies at greater risk of suboptimal fetal growth (SFG) but only a minority were born SGA, cardiometabolic risk markers were measured and blood samples collected for metabolomic analysis....

Background: Historically, a second LHRH stimulation test has been the gold standard test for the evaluation of biochemical evidence of pubertal suppression in patients with central precocious puberty (CPP) following commencement of GnRH analogue therapy. However, this test is time-consuming, costly, and uncomfortable for patients.Aims/objective: To analyse the validity of the basal LH level as a predictor to the peak LH ...

Background: Screening algorithms for the identification of growth-disorders are routinely used in several countries. In the UK, the use of the Coventry consensus for the referral of children with suspected growth-disorders performs poorly compared to more sophisticated screening mechanisms used elsewhere. We aimed to test an algorithm developed to screen for growth-disorders in 2- to 8-year-old UK children.Methods: The a...

Background: The main aim of growth hormone(GH) treatment during childhood is to attain optimal final height. As a young adult GH treatment is important to achieve optimal body composition (including peak bone mass), psychosocial development and to reduce metabolic and cardiovascular risks. At completion of linear growth (height velocity [HV] <2 cm/year), it is recommended that GH treatment should be discontinued, and GH status reassessed to determine the e...

Background: A diagnosis Silver–Russell Syndrome (SRS) is important for early institution of appropriate management, access to therapy and reduces the burden of diagnostic uncertainty. SRS is molecularly heterogeneous and 11p15 LOM/upd(7)mat account for ~60% cases. Monogenic causes include variants in HMGA2, CDKN1C, IGF-2, PLAG1 and contribute to 5% cases. Clinical SRS diagnosis requires the fulfilment of ≥4/6 Netchine–Harbison Clinical Scoring ...

Introduction: PSIS is a rare congenital abnormality characterised by a triad of thin or interrupted pituitary stalk, small or absent anterior pituitary, and an absent or ectopic posterior pituitary gland. Incidence is around 0.5/100 000 births. Clinical presentation varies according to age. We herein describe two cases of PSIS diagnosed in the early infantile period.Case 1: A term female neonate born by emergency section...

Background: Precocious puberty is thought to occur in 1 in 5000–10 000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence. Objective: To find the frequency of precocious puberty in children and to compare the clinical and laboratory parameters of central and peripheral precocious puberty. M...

Introduction: We report a patient with a giant prolactinoma due to Multiple Endocrine Neoplasia type 1 (MEN1) with consequential growth hormone deficiency and central hypothyroidism.Case report: A 12-year-old girl attended the genetic clinic, as her father had MEN-1 mutation. On questioning, she reported severe headaches, increasing in frequency over several months, with fatigue and hair loss. She had breast development ...