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8.21. P450 oxidoreductase deficiency: A systematic review and meta-analysis of genotypes, phenotypes, and their relationships

B Dean , GL Chrisp , M Quartararo , AM Maguire , S Hameed , BR King , CF Munns , DJ Torpy , H Falhammar , RL Rushworth

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz255. PMID: 31825489.P450 oxidoreductase deficiency (PORD) is a rare autosomal recessive variant of congenital adrenal hyperplasia (CAH) arising from homozygous or compound heterozygous mutations to the gene encoding the enzyme P450 oxidoreductase (POR ) (1). Patients with PORD have a range of skeletal malformation...

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ey0016.7-1 | Basic Science | ESPEYB16

7.1. PACAP neurons in the ventral premammillary nucleus regulate reproductive function in the female mouse

RA Ross , S Leon , JC Madara , D Schafer , C Fergani , CA Maguire , AM Verstegen , E Brengle , D Kong , AE Herbison , UB Kaiser , BB Lowell , VM Navarro

To read the full abstract: Elife. 2018 Jun 15;7. pii: e35960.Using transgenic mice, this team discover a new role for Pituitary adenylate cyclase activating polypeptide (PACAP) in female puberty and reproduction. This neuropeptide relays nutritional state information in the hypothalamus to regulate gonadotropin-releasing hormone release.Metabolic cues play...

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ESPE Yearbook of Paediatric Endocrinology

8.21. P450 oxidoreductase deficiency: A systematic review and meta-analysis of genotypes, phenotypes, and their relationships

7.1. PACAP neurons in the ventral premammillary nucleus regulate reproductive function in the female mouse

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