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ey0019.5-4 | Advances in clinical practice | ESPEYB19

5.4. PTH infusion for seizures in autosomal dominant hypocalcemia type 1

A Sastre , K Valentino , FM Hannan , KE Lines , AK Gluck , M Stevenson , M Ryalls , RJ Gorrigan , D Pullen , J Buck , S Sankaranarayanan , J Allgrove , RV Thakker , EF Gevers

N Engl J Med. 2021 Jul 8;385(2):189-191.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34233101/In brief: This study retrospectively analysed a cohort of patients with autosomal dominant hypocalcemia type 1 and recurrent hypocalcemic seizures treated with continuous subcutaneous PTH (1-34) infusions using insulin pumps. Compared to conventional therapy, PTH (1-34)...

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ey0018.6-3 | Basic and Genetic Research of DSD | ESPEYB18

6.3. The FKBP4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome

E Ilaslan , R Markosyan , P Sproll , BJ Stevenson , M Sajek , MP Sajek , H Hayrapetyan , T Sarkisian , L Livshits , S Nef , J Jaruzelska , K Kusz-Zamelczyk

Int J Mol Sci. 2020 Nov 9;21(21):8403. doi: 10.3390/ijms21218403. PMID: 33182400This case report describes a patient with clinically diagnosed partial androgen insensitivity syndrome (PAIS). However, no mutation in the androgen receptor gene was identified. Instead, whole genome sequencing revealed a heterozygous point mutation inherited from the mother in the FKBP4 gene. This gene i...

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ESPE Yearbook of Paediatric Endocrinology

5.4. PTH infusion for seizures in autosomal dominant hypocalcemia type 1

6.3. The FKBP4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome

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