Endocrine Abstracts

Induction of puberty is indicated in children with primary or secondary gonadal failure, and where there is pubertal arrest or delay for whatever reason.Timing of induction will vary depending upon age at presentation/diagnosis, but as far as possible this should coincide with expected pubertal changes within the normal population range.Optimization of final height, breast and uterine development, and fertility are important outcom...

Background: McCune Albright Syndrome (MAS) is a rare mosaic disease caused by activating mutation in GNAS, characterized by bone fibrous dysplasia, café au- lait (CAL) and hyper functional endocrinopathies (1). GIPP is the most common endocrinologic manifestation seen more frequently in girls (2). In a few studies, letrozole, tamoxifen, or fulvestrant were effective in decreasing the rate of skeletal maturation and vaginal bleeding (3,4,5).Case Repo...

Introduction: Inactivating mutations of the calcium sensing receptor (CASR) are associated with familial benign hypercalcaemia (FBH) and neonatal severe hyperparathyroidism whilst activating mutations are associated with autosomal dominant hypocalcaemia (ADH) and Bartter syndrome Type V.Aims: To highlight the phenotypic and biochemical variability seen with both activating and inactivating mutations of the CaSR.Methods: To describe...

A 3-years-old young girl, born to Caucasian non-consanguineous parents, presented with bowed legs, noticed since the age of 18-months. She had no significant past medical or family history. On examination, her height was −1.3 SDS (Mid parental height +1.87 SDS). She had widened wrists, genu varum and rachitic rosary. She had areas of skin hyperpigmentation on left forearm and anterior thigh.Investigations showed low 25-OH Vitamin D (35 nmol/l), nor...

Introduction: It has been documented that autoimmune thyroiditis (AT) predisposes to the development of papillary thyroid cancer (PTC). The presence of chronic inflammation was thought to act as an initiating factor in carcinogenesis. Moreover elevated levels of TSH found in hypothyroid patients with AT were speculated to stimulate follicular epithelial proliferation and thereby promote the development of PCT.Case: We describe a case of two sisters aged ...

Introduction: Adolescents with persistent gender dysphoria (GD) receive GnRH analogues to achieve pubertal arrest. It is unclear whether this is adequate to achieve biochemical suppression of gonadotrophin (LH, FSH) and sex hormone production.Methods: Gonadotrophins, testosterone and oestradiol were measured in GD patients (15–18 years) before and after monthly Gonapeptyl treatment (3.75 mg i.m.). Patients administered other analogues and/or cross-s...

Background: Activating mutations in the calcium sensing receptor can result in severe hypoparathyroidism with symptomatic hypocalcaemia. Complications of treatment with calcitriol or alfacacidol include hypercalciuria, nephrocalcinosis and renal failure. The use of synthetic parathyroid hormone (PTH 1–34, teriparatide) provides a more physiological treatment option and reduces the risk of hypercalciuria. Intermittent injections of PTH have been used with some success but ...

Introduction: Generalised arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, associated with high mortality rate, due to inactivating mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene that results in arterial stenosis secondary to unregulated hydroxyapatite deposition.Case report: A female baby was born at 34+5 weeks to consanguineous parents with a birth weight of 3.97 kg. Baby was born in ...

Introduction The endocrine assessment of children with Duchenne muscular dystrophy (DMD) can be necessary for management of osteoporosis, delayed puberty, obesity, adrenal insufficiency, and short stature. With ongoing implementation of the international standards of care for DMD, referrals to our Metabolic Bone Clinic (MBC) increased beyond its capacity, impacting patient care. The neuromuscular and endocrine departments implemented a new referral pathway and Multidis...

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...