Endocrine Abstracts

Introduction: Pathogenic MC4R gene variants result in hyperphagia and early onset obesity, but puberty is not usually affected. We recently assessed spontaneous LH and FSH pulsatility, response to LHRH and kisspeptin in a previously presented male with anosmia, delayed puberty (Tanner stage A2P1G1, 5ml testes) and obesity (BMI 30.7 kg/m2) and a MC4R variant.Results: GnRH test showed borderline low peaks (LH 5.0 U/l, FSH 2.6 U...

Gonadotropin deficiency, secondary either to hypogonadotropic hypogonadism with hypothalamic gonadotropin-releasing hormone (GnRH) deficiency, or to combined pituitary hormone deficiency, is a rare condition where even expert centres manage only small numbers of patients each year. Best practice therapies are not clearly defined, although the case for supporting replacement of combined gonadotropins - in infancy to replace minipuberty and in adolescence to replace puberty - in...

Non ketotic hyperglycinaemia (NKH)is due to a mutation in the glycine cleavage enzyme system leading to accumulation of glycine in the body especially in the spinal cord and brain. Patients typically present with neurological problems. Some NKH symptoms involve the inhibitory strychnine-sensitive glycine receptors, whereas the pathogenesis of seizures involves the excitatory strychnine-insensitive glycine receptors belonging to the N-methyl-D-aspartate (NMDA) receptor complex....

A 6-month-old, ex premature 25-week-old girl, presented with 7 episodes of painless vaginal bleeding over 48 hours period and breast development. She was born to a non-consanguineous couple and had normal female genitalia at birth with slightly enlarged clitoris. Her mother had pre-eclampsia and focal segmental glomerulonephritis. Baseline investigations (full blood count, liver/kidney/thyroid function and clotting) were all normal. Endocrine investigations included urine for ...

Case Report: A 16.4 year-old patient presented with a history of headaches and maternal concerns that these may be hormone-related due to primary amenorrhoea. There was also a history of low mood and self-harm, known to a private counsellor. The patient was a competitive swimmer at national level and had attributed amenorrhoea and lack of breast development to this, and viewed it positively. Examination revealed androgenised features, clitoromegaly and absence of typical femal...

Introduction: The LHRH (luteinizing hormone releasing hormone) is routinely performed for both precocious (PP) and delayed puberty (DP) in children.Aim: To assess utility of LHRH test results in guiding clinical decisions.Materials & Methods: In this pilot study, we retrospectively studied LHRH tests done in 2019. A peak luteinizing hormone (LH) (pLH) ≥ 5 IU/l and an LH:FSH (follicle stimulating hormone) ratio > 1 ind...

Background: Klinefelter syndrome (KS) is a sex chromosome disorder characterised in males by a 47, XXY genotype. There is a highly varied phenotypic spectrum among affected individuals, which may present challenges with standardisation of care.Aims: To determine the clinical characteristics of boys with 47, XXY seen at a tertiary paediatric endocrine clinic in the West of Scotland and develop checklists to standardise care.Methods:...