hrp0089p3-p022 | Adrenals and HPA Axis P3 | ESPE2018

Identification of X-linked Adrenoleukodystrophy in Boys Presenting with Adrenal Insufficiency in the Absence of Adrenal Antibodies

Ryalls Michael , Gan Hoong-Wei , Biedenkapp Joe , Davison James

Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by genetic deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA) primarily in the adrenal cortex and central nervous system. Approximately 35–40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Disease progress can be halted by allogeneic hematopoietic cell trans...

hrp0094fc6.2 | Bone and Mineral Metabolism | ESPE2021

Long-term effectiveness of PTH(1-34) infusion therapy for autosomal dominant hypocalcaemia type 1.

Sastre Ana , Valentino Kevin , Hannan Fadil M , Lines Kate E , Gluck Anna K , Stevenson Mark , Ryalls Michael , Gorrigan Rebecca , Pullen Debbie , Buck Jackie , Sankar Sailesh , Allgrove Jeremy , Thakker Rajesh V , Gevers Evelien F ,

Background: Patients with autosomal dominant hypocalcemia type 1 (ADH1), due to germline gain-of-function calcium-sensing receptor (CASR) mutations, have hypocalcemia and seizures, hyperphosphatemia, hypercalciuria and inappropriately low parathyroid hormone (PTH) concentrations. Treatment for ADH1 comprises calcium and vitamin D analogs, however, their use predisposes to nephrocalcinosis and renal impairment. In contrast, recombinant human PTH(1-34) may incre...