Browsing Centre for Endocrinology by Author "Achermann, JC"
Now showing items 1-11 of 11
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Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report
Ali, N; Maharaj, AV; Buonocore, F; Achermann, JC; Metherell, LA (2022) -
Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years
Buonocore, F; Maharaj, A; Qamar, Y; Koehler, K; Suntharalingham, JP; Chan, LF; Ferraz-de-Souza, B; Hughes, CR; Lin, L; Prasad, R (2021-09) -
Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK
Buonocore, F; Maharaj, A; Qamar, Y; Koehler, K; Suntharalingham, JP; Chan, LF; Ferraz-de-Souza, B; Hughes, CR; Lin, L; Prasad, R (Oxford University Press, 2021-05-12)Context Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions ... -
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency
Maharaj, A; Guran, T; Buonocore, F; Achermann, JC; Metherell, L; Prasad, R; Cetinkaya, S (2022) -
Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit
Katugampola, H; King, PJ; Chatterjee, S; Meso, M; Duncan, AJ; Achermann, JC; Guasti, L; Ghataore, L; Taylor, NF; Allen, R (2017-09) -
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
Kallali, W; Gray, E; Mehdi, MZ; Lindsay, R; Metherell, LA; Buonocore, F; Suntharalingham, JP; Achermann, JC; Donaldson, M (2020-03)Objective: CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype and evolution in a male sibship identified ... -
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency
Chan, L; Maudhoo, A; Maharaj, A; Buonocore, F; Martos-Moreno, GA; Argente, J; Achermann, JC; Metherell, LACongenital isolated ACTH deficiency (IAD) is a rare condition characterised by low plasma ACTH and serum cortisol with normal production of other pituitary hormones. TBX19 (also known as TPIT) is a T-box pituitary restricted ... -
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj, A; Buonocore, F; Meimaridou, E; Ruiz-Babot, G; Guasti, L; Peng, H-M; Capper, CP; Burgos-Tirado, N; Prasad, R; Hughes, CR (2019-01-01)Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children ... -
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
Maharaj, A; Kwong, R; Williams, J; Smith, C; Storr, H; Krone, R; Braslavsky, D; Clemente, M; Ram, N; Banerjee, I (2022) -
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
Lin, L; Hindmarsh, PC; Metherell, LA; Alzyoud, M; Al-Ali, M; Brain, CE; Clark, AJL; Dattani, MT; Achermann, JC (2007-02) -
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
Prasad, R; Hadjidemetriou, I; Maharaj, A; Meimaridou, E; Buonocore, F; Saleem, M; Hurcombe, J; Bierzynska, A; Barbagelata, E; Bergada, I (2017-03-01)