Endocrine Abstracts

Prohormone convertase 1/3 (PC1/3) deficiency is rare, caused by homozygous or compound heterozygous mutations in the PCSK1 gene. PCSK1 encodes a serine protease important in cleavage of several proneuropeptides and prohormones. Despite a variety of known endocrine associations, paediatric diabetes mellitus is rare, described only once before. Previous understanding was that biological activity of elevated proinsulin (<5% of the activity of insulin) confers protection from ...

Hypogonadotropic hypogonadism (HH) is a rare reproductive disorder that results in a lack of normal pubertal development and reduced potential for fertility in adult life. The condition is characterised by low circulating sex steroid concentrations resulting from a deficiency of pituitary gonadotropin production. HH may be congenital or acquired, most commonly due to tumour or treatment for malignant disease. When associated with anosmia it is termed Kallmann syndrome. HH is a...

Aim: The sex hormones initiate profound physical and physiological changes during early puberty, but to what extent are they responsible for continuing the body composition changes of late adolescence? We aimed to examine the effect on body composition of sudden sex hormone withdrawal to gain insight into their action.Patients and Methods: Thirty six healthy phenotypically and chromosomally normal postpubertal individuals aged 15–17 years with gende...

Background: Chromosome analysis is always indicated in disorders of sex development (DSD), but the need for karyotyping in gender dysphoria (GD) is less clear.Aims and objectives: We therefore aimed to review the place of routine chromosome analysis in the management of GD in children and adolescents.Patients and methods: Five hundred and twenty children and adolescents with GD have been referred at the time of reporting to the two...

Recent guidelines indicate that pregnant women with subclinical hypothyroidism (SCH, TSH above the pregnancy-related reference range where available, or ≧2.5 mU/l) should be treated with thyroxine. We aimed to determine the frequency of overt hypothyroidism (OH; TSH>5 mU/l) and SCH (TSH >2.5 but <5 mU/l) in pregnancy, and to examine how many are diagnosed with thyroid problems after pregnancy. Four thousand three hundred women were recruited between 2007 and...

Introduction: Utilization rates of fertility preservation among transgender adolescents (TA) are low. Few studies have addressed the reproductive desires of this population. The aim of this study was to assess TA parenthood goals, attitudes about fertility preservation (FP) and perceived barriers to successful gamete banking.Methods: Transgender adolescents who attended the Gender Identity Development Service (GIDS - endocrine clinic) between March and J...

Background: Male adolescents with hypogonadotropic hypogonadism (HH) or delayed puberty start pubertal induction from 12–14 years. Testosterone obtains secondarysexual characteristics and improves psychosocial well being. Gonadotropin releasing hormone (GnRH) or recombinant FSH (rFSH) and human chorionic gonadotropin (hCG) generate testicular growth (fertility) and testicular testosterone production. HCG-rFSH treatment increase testis size and improves the quality of life...

Background: Fertility preservation (FP) amongst transgender adolescents (TA) is receiving more attention as individuals are transitioning at younger ages. Parents have a key role at exploring options for their children and are usually the ones responsible for consenting to interventions. Our aim was to explore parent’s attitudes regarding their offspring parenthood goals, FP counselling and perceived barriers to successful gamete banking.Methods: Pa...

In patients with diabetes an isolated ‘sausage toe’ is suggestive of underlying osteomyelitis. Neuropathic (Charcot) arthropathy, devastating complication of diabetes, normally presents in the midfoot and can be precipitated by surgery or minor trauma.We report a 62-year-old man with a 2-year history of well controlled type 2 diabetes (HbA1c 56 mmol/mol), with no micro or macro vascular complications, referred to diabetic podiatrist with a hot,...

Introduction: Most adolescents with GID have no overt functional or phenotypic abnormalities to explain their presentation. Currently all female to male (FtM) persons undergo detailed evaluation of adrenal function. This study aimed to determine whether subtle abnormalities of adrenal were present and what the appropriate investigation schedule should be.Methods: Over the past 4 years, 55 biological females aged mean age 16.54 years (13.46–18.37) we...