Emergency and perioperative management of adrenal insufficiency in children and young people: BSPED consensus guidelines
Background Adrenal insufficiency (AI) is characterised by a deficiency in adrenal cortisol production. It can arise due to a primary adrenal disorder (eg, autoimmune Addison’s disease or congenital adrenal hyperplasia) which is commonly associated with glucocorticoid and mineralocorticoid deficiency. Secondary AI occurs when a pathology in the pituitary gland causes a lack of adrenocorticotropic hormone leading to a cortisol deficiency (eg, hypopituitarism) or as a result of suppression of the hypothalamic–pituitary–adrenal axis from exogenous glucocorticoids.1 The glucocorticoid deficiency in AI is manag...
Source: Archives of Disease in Childhood - Education and Practice - May 17, 2024 Category: Pediatrics Authors: McKenna, M., McBay-Doherty, R., Heffernan, E. Tags: Guideline review Source Type: research

Memory in female adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ConclusionsFemale adolescents with CAH had worse visual working memory compared to matched controls, but not in verbal memory. Age at diagnosis was negatively associated with the memory tests. (Source: Endocrine)
Source: Endocrine - May 10, 2024 Category: Endocrinology Source Type: research

CAHQL: A patient reported outcome instrument to assess health-related quality of life in congenital adrenal hyperplasia
CONCLUSION: CAHQL is the first validated PRO instrument to capture disease specific HRQoL outcomes in CAH. In addition to its anticipated use in the clinical setting, the instrument could be used to assess the efficacy of novel treatments in development.PMID:38706369 | DOI:10.1210/clinem/dgae309 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - May 6, 2024 Category: Endocrinology Authors: Myrto Eleni Flokas Li Yang Kimberly R Middleton Sarah Kollender Megan Parker Charles Sukin Rebecca Wood Persky Deborah P Merke Source Type: research

CAHQL: A patient reported outcome instrument to assess health-related quality of life in congenital adrenal hyperplasia
CONCLUSION: CAHQL is the first validated PRO instrument to capture disease specific HRQoL outcomes in CAH. In addition to its anticipated use in the clinical setting, the instrument could be used to assess the efficacy of novel treatments in development.PMID:38706369 | DOI:10.1210/clinem/dgae309 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - May 6, 2024 Category: Endocrinology Authors: Myrto Eleni Flokas Li Yang Kimberly R Middleton Sarah Kollender Megan Parker Charles Sukin Rebecca Wood Persky Deborah P Merke Source Type: research

Can incorporating molecular testing improve the accuracy of newborn screening for congenital adrenal hyperplasia?
CONCLUSIONS: Incorporation of molecular testing could improve the accuracy of CAH NBS, although some distinct challenges of molecular testing may need to be considered before implementation by NBS programs.PMID:38701341 | DOI:10.1210/clinem/dgae297 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - May 3, 2024 Category: Endocrinology Authors: Kyriakie Sarafoglou Amy Gaviglio Carrie Wolf Cindy P Lorentz Aida Lteif Jennifer Kyllo Gretchen Radloff Zachary Detwiler Carla D Cuthbert James S Hodges Scott D Grosse Christopher N Greene Suzanne Cordovado Source Type: research

Can incorporating molecular testing improve the accuracy of newborn screening for congenital adrenal hyperplasia?
CONCLUSIONS: Incorporation of molecular testing could improve the accuracy of CAH NBS, although some distinct challenges of molecular testing may need to be considered before implementation by NBS programs.PMID:38701341 | DOI:10.1210/clinem/dgae297 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - May 3, 2024 Category: Endocrinology Authors: Kyriakie Sarafoglou Amy Gaviglio Carrie Wolf Cindy P Lorentz Aida Lteif Jennifer Kyllo Gretchen Radloff Zachary Detwiler Carla D Cuthbert James S Hodges Scott D Grosse Christopher N Greene Suzanne Cordovado Source Type: research

Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Conclusionsour data demonstrated that children affected with 21-OHD can be at risk of developing nephrolithiasis. Additional studies are needed to clarify the pathogenesis and other possible risk factors for this condition, and to establish if regular screening of kidney ultrasound in these patients can be indicated. (Source: Endocrine)
Source: Endocrine - May 1, 2024 Category: Endocrinology Source Type: research

Recommendations for 46,XX Congenital Adrenal Hyperplasia Across Two Decades: Insights from the North American Differences of Sex Development Clinician Survey
Arch Sex Behav. 2024 Apr 29. doi: 10.1007/s10508-024-02853-1. Online ahead of print.ABSTRACTSeveral aspects of clinical management of 46,XX congenital adrenal hyperplasia (CAH) remain unsettled and controversial. The North American Disorders/Differences of Sex Development (DSD) Clinician Survey investigated changes, over the last two decades, in clinical recommendations by specialists involved in the management of newborns with DSD. Members of the (Lawson Wilkins) Pediatric Endocrine Society and the Societies for Pediatric Urology participated in a web-based survey at three timepoints: 2003-2004 (T1, n = 432), 2010-2011 (T...
Source: Archives of Sexual Behavior - April 29, 2024 Category: Psychiatry & Psychology Authors: Melissa Gardner Behzad Sorouri Khorashad Peter A Lee Barry A Kogan David E Sandberg Source Type: research

Recommendations for 46,XX Congenital Adrenal Hyperplasia Across Two Decades: Insights from the North American Differences of Sex Development Clinician Survey
Arch Sex Behav. 2024 Apr 29. doi: 10.1007/s10508-024-02853-1. Online ahead of print.ABSTRACTSeveral aspects of clinical management of 46,XX congenital adrenal hyperplasia (CAH) remain unsettled and controversial. The North American Disorders/Differences of Sex Development (DSD) Clinician Survey investigated changes, over the last two decades, in clinical recommendations by specialists involved in the management of newborns with DSD. Members of the (Lawson Wilkins) Pediatric Endocrine Society and the Societies for Pediatric Urology participated in a web-based survey at three timepoints: 2003-2004 (T1, n = 432), 2010-2011 (T...
Source: Archives of Sexual Behavior - April 29, 2024 Category: Psychiatry & Psychology Authors: Melissa Gardner Behzad Sorouri Khorashad Peter A Lee Barry A Kogan David E Sandberg Source Type: research

Glucose pattern in children with classical congenital adrenal hyperplasia: evidence from continuous glucose monitoring
Eur J Endocrinol. 2024 Apr 26:lvae042. doi: 10.1093/ejendo/lvae042. Online ahead of print.NO ABSTRACTPMID:38668689 | DOI:10.1093/ejendo/lvae042 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - April 26, 2024 Category: Endocrinology Authors: A Galderisi D Kariyawasam A Stoupa A Quoc G Pinto M Viaud S Brabant J Beltrand M Polak D Samara-Boustani Source Type: research

Glucose pattern in children with classical congenital adrenal hyperplasia: evidence from continuous glucose monitoring
Eur J Endocrinol. 2024 Apr 26:lvae042. doi: 10.1093/ejendo/lvae042. Online ahead of print.NO ABSTRACTPMID:38668689 | DOI:10.1093/ejendo/lvae042 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - April 26, 2024 Category: Endocrinology Authors: A Galderisi D Kariyawasam A Stoupa A Quoc G Pinto M Viaud S Brabant J Beltrand M Polak D Samara-Boustani Source Type: research

Glucose pattern in children with classical congenital adrenal hyperplasia: evidence from continuous glucose monitoring
Eur J Endocrinol. 2024 Apr 26:lvae042. doi: 10.1093/ejendo/lvae042. Online ahead of print.NO ABSTRACTPMID:38668689 | DOI:10.1093/ejendo/lvae042 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - April 26, 2024 Category: Endocrinology Authors: A Galderisi D Kariyawasam A Stoupa A Quoc G Pinto M Viaud S Brabant J Beltrand M Polak D Samara-Boustani Source Type: research

Newborn screening in France: news and perspectives
Ann Biol Clin (Paris). 2024 Apr 19;82(1):24-31. doi: 10.1684/abc.2024.1869.ABSTRACTNewborn screening is a major public health concern. In France, it was established in 1972 with systematic screening for phenylketonuria. Subsequently, other screenings, including congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, and sickle cell disease, were added. The introduction of tandem mass spectrometry in screening laboratories in 2020 enabled the inclusion of eight additional inherited metabolic diseases: aminoacidopathies (tyrosinemia type I, maple syrup urine disease, and homocystinuria), organic acidurias...
Source: Annales de Biologie Clinique - April 19, 2024 Category: Biochemistry Authors: Emeline Gernez Estelle Roland Claire-Marie Dhaenens Gilles Renom Karine Mention Source Type: research

Newborn screening in France: news and perspectives
Ann Biol Clin (Paris). 2024 Apr 19;82(1):24-31. doi: 10.1684/abc.2024.1869.ABSTRACTNewborn screening is a major public health concern. In France, it was established in 1972 with systematic screening for phenylketonuria. Subsequently, other screenings, including congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, and sickle cell disease, were added. The introduction of tandem mass spectrometry in screening laboratories in 2020 enabled the inclusion of eight additional inherited metabolic diseases: aminoacidopathies (tyrosinemia type I, maple syrup urine disease, and homocystinuria), organic acidurias...
Source: Annales de Biologie Clinique - April 19, 2024 Category: Biochemistry Authors: Emeline Gernez Estelle Roland Claire-Marie Dhaenens Gilles Renom Karine Mention Source Type: research