Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. The hallmark feature of PORD is combined sex-steroid and glucocorticoid deficiency due to impairment of CYP17A1 and CYP21A2. Skeletal malformations resembling the Antley-Bixler Syndrome phenotype are common i...

Background: Congenital isolated ACTH deficiency (IAD) is a rare condition characterised by low plasma ACTH and serum cortisol with normal production of other pituitary hormones. TBX19 is a T-box pituitary restricted transcription factor important for POMC gene transcription and terminal differentiation of POMC-expressing cells. TBX19 gene mutations have been shown to cause neonatal-onset congenital IAD. To date 25 mutations in TBX19 have been described, five ...

A 60 year old Caucasian woman was referred to endocrine clinic with persistent hypercalcaemia between 2.8 and 2.9 mmol/l (2.2–2.6), with inappropriately normal PTH at 7 pmol/l (1.48–7.63). Her hypercalcaemia was noted first in 2008. She had no signs or symptoms associated with hypercalcemia. However, she has a strong family history of hypercalcaemia, where her mother required Cinacalcet to control her hypercalcaemia despite two previous parathyroid resections. She ha...

A 31-year-old female was referred to Endocrinology clinic for review of her hypergonadotrophic-hypogonadism. She had cleft palate operation at age 3. At age 15y lack of pubertal signs prompted investigations showing XX genotype, FSH:120 IU/L, LH:32 IU/L and low E2. She was started on cyclo-progynova (elsewhere). She has tall stature, span 2.5 cm longer than height, bifid uvula, arachnodactyly with positive ‘wrist sign’, mild scoliosis, pectus excavatum and reduced mu...

Background: GH Insensitivity (GHI) is usually caused by mutations in the GH receptor (GHR). Our centre previously described the first GHR pseudoexon mutation (42700896A>G, c. 618+792A>G). Inclusion of this 108bp pseudoexon is predicted to lead to in-frame insertion of 36 amino acid residues in the dimerization domain of the GHR. This results in defective trafficking rather than impaired signalling, causing partial loss-of-function and moderat...

Introduction: Immune dysregulation is a feature of Cushing’s syndrome (CS). We report a case of CS that presented with rapidly developing cutaneous Kaposi’s sarcoma (KS).Case description: A previously well 59-year-old heterosexual man presented with a two-month history of proximal muscle weakness, recurrent mouth ulcers, and purplish skin lesions. He had a background history of hypertension. Skin biopsies were compatible with KS. History of pas...

A sixty-four year old man presented for investigation of mild hypercalcaemia (2.68 mmol/L) incidentally discovered during preoperative workup for elective removal of a testicular cyst. He had no family history of renal stones. His younger brother had undergone a parathyroidectomy at the age of 60. His father died in a road traffic accident aged 54. His mother was 84 and had no history of endocrine disease. Urine calcium:creatinine excretion ratio was 0.0207, excluding familial...

Acromegaly is a clinical manifestation of excessive peripheral growth hormone (GH) action. Most cases result from pituitary somatotroph adenomas displaying varying degrees of GH immunoreactivity. Occasionally, GH is cosecreted with a second hormone from adenomas containing mixed cell populations (e.g. somatolactotroph tumours). Coexistence of multiple discrete adenomas, identical or distinct in hormone secretion, is infrequent. In very rare cases, acromegaly results from neuro...

A 61 year old female, without significant medical history, presented to her optometrist in Feb 2018 with clouding of vision and left sided proptosis. Opthalmic examination showed vision 6/7.5 right and 6/9 left eye, 3 mm proptosis on the left and diplopia on upward and right lateral gaze. Brain MRI demonstrated 6.3×5.6×5.8 cm lesion centered in the clivus and pituitary fossa, expanding in all directions; the bulk of the lesion was in the left parasellar region, encas...

Introduction: Familial dysalbuminemic hyperthyroxinemia (FDH) is characterized by artefactual hyperthyroxinemia caused by enhanced binding affinity of thyroxine to the mutant albumin. However little is known about how FDH affects the measurement of thyroid hormones, especially FT3, across many assay platforms.Methods: Forty-eight genetically confirmed FDH patients (R218H mutation) had FT4 and FT3 measured with 1-step (ADVIA CENTAUR®, Siem...