Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts

A Oladayo, LJJ Gowans, W Awotoye… - Molecular genetics & …, 2023 - Wiley Online Library
Introduction The frequency and implications of secondary findings (SFs) from genomic
testing data have been extensively researched. However, little is known about the frequency …

[HTML][HTML] Exploring dried blood spot cortisol concentrations as an alternative for monitoring pediatric adrenal insufficiency patients: A model-based analysis

V Stachanow, U Neumann, O Blankenstein… - Frontiers in …, 2022 - frontiersin.org
Congenital adrenal hyperplasia (CAH) is the most common form of adrenal insufficiency in
childhood; it requires cortisol replacement therapy with hydrocortisone (HC, synthetic …

Optimisation of congenital adrenal hyperplasia therapy in paediatric and foetal populations by leveraging pharmacometrics

V Stachanow - 2023 - refubium.fu-berlin.de
Congenital adrenal hyperplasia (CAH) is a rare form of adrenal insufficiency causing
deficiency of the highly regulated hormone cortisol and accumulation of its precursors such …

Audit of management of children and adolescents with congenital adrenal hyperplasia as per recent Endocrine Society guidelines

S Lalitha, HK Prasad, B Ramjee… - Pediatric Endocrinology …, 2022 - termedia.pl
Results Conservative approach to genitoplasty in female children increased from 42.9% to
88.9%. Newborn screening identified 4 babies including two asymptomatic males averting …

Huge ovarian cyst in a neonate with classical 21-hydroxylase deficiency

Y Abdelmeguid, N Yakout, A Oshiba… - Clinical Pediatric …, 2021 - jstage.jst.go.jp
Congenital adrenal hyperplasia is the most common cause of ambiguous genitalia
worldwide, with an incidence of 1 in 15,000 live births. The most frequently-occurring …

[PDF][PDF] A clinical account of Pakistani children suffering from congenital adrenal hyperplasia.

S Mansoor, MH Baloch, Z Khan… - JPMA. The Journal of the …, 2023 - researchgate.net
The objective of the endeavour was to study the clinical presentation, diagnosis, and 12
management of paediatric patients suffering from congenital adrenal hyperplasia and 13 …

Quality of life and disease perceptions in caregivers of children with Congenital Adrenal Hyperplasia

M Bharadwaj, V Tyagi, A Dabas, S Yadav - Medical Journal Armed Forces …, 2023 - Elsevier
Background Congenital adrenal hyperplasia (CAH) is a chronic disorder requiring lifelong
therapy. False perceptions, poor knowledge, and social isolation adversely affect the …

[HTML][HTML] Влияние заместительной терапии глюкокортикоидами на костный обмен при надпочечниковой недостаточности. Обзор литературы

МЮ Юкина, МО Чернова, НФ Нуралиева… - Ожирение и …, 2020 - cyberleninka.ru
Надпочечниковая недостаточность-синдром, обусловленный нарушением синтеза и
секреции гормонов коры надпочечников, которые обеспечивают жизнедеятельность …

Clitoromegalia a propósito de un caso de ambigüedad genital en el centro de salud Belisario Quevedo, Latacunga–Ecuador 2023

DE Vinueza López - 2023 - dspace.uniandes.edu.ec
La clitoromegalia es el agrandamiento anormal del clítoris que puede ser congénito o
adquirido, con mayor frecuencia como resultado de la exposición a un exceso de …

HIPERPLASIA ADRENAL CONGÊNITA: AVALIAÇÃO DERMATOLÓGICA E TRATAMENTO CLÍNICO

AA Matos, AE Tomain, ACF Barros… - … Ibero-Americana de …, 2023 - periodicorease.pro.br
A hiperplasia adrenal congênita (HAC) é um grupo de distúrbios genéticos que afetam a
síntese de hormônios esteroides pelas glândulas adrenais. Esses hormônios incluem o …