Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
M Kocova, V Anastasovska, H Falhammar - Endocrine, 2020 - Springer
Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-
hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the …
hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the …
Neonatal mass screening for 21-hydroxylase deficiency
T Tajima, M Fukushi - Clinical Pediatric Endocrinology, 2016 - jstage.jst.go.jp
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an
inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide …
inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide …
Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study
P Bougnères, C Bouvattier, M Cartigny… - International journal of …, 2017 - Springer
Abstract Background Genital surgery in Disorders of Sex Development (DSD) has been an
area of debate over the past 20 years. Emerging scientific evidence in the late 1990s defied …
area of debate over the past 20 years. Emerging scientific evidence in the late 1990s defied …
The high prevalence of testicular adrenal rest tumors in adult men with congenital adrenal hyperplasia is correlated with ACTH levels
R Mazzilli, A Stigliano, M Delfino, S Olana… - Frontiers in …, 2019 - frontiersin.org
Introduction: The aims of this study were to determine the prevalence of testicular-adrenal
rest tumors (T-ARTs) in patients with congenital adrenal hyperplasia (CAH) and to evaluate …
rest tumors (T-ARTs) in patients with congenital adrenal hyperplasia (CAH) and to evaluate …
Incidence and characteristics of adrenal crisis in children younger than 7 years with 21-hydroxylase deficiency: a nationwide survey in Japan
Background/Aims: We aimed to evaluate the incidence and characteristics of adrenal crisis
in Japanese children with 21-hydroxylase deficiency (21-OHD). Methods: We conducted a …
in Japanese children with 21-hydroxylase deficiency (21-OHD). Methods: We conducted a …
Monitoring treatment in pediatric patients with 21-hydroxylase deficiency
T Itonaga, Y Hasegawa - Frontiers in Endocrinology, 2023 - frontiersin.org
21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal
hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD …
hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD …
[HTML][HTML] Late-onset glucocorticoid-responsive circulatory collapse in premature infants
S Iijima - Pediatrics & Neonatology, 2019 - Elsevier
Late-onset glucocorticoid-responsive circulatory collapse (LGCC) in infants is characterized
by sudden onset of hypotension and/or oliguria, which is resistant to volume expanders and …
by sudden onset of hypotension and/or oliguria, which is resistant to volume expanders and …
First morning pregnanetriol and 17-hydroxyprogesterone correlated significantly in 21-hydroxylase deficiency
T Itonaga, M Izawa, T Hamajima… - Frontiers in …, 2022 - frontiersin.org
Background Biochemically monitoring 21-hydroxylase deficiency (21-OHD) is challenging.
Serum/blood 17-hydroxyprogesterone (17OHP) measurements are normally used for this …
Serum/blood 17-hydroxyprogesterone (17OHP) measurements are normally used for this …
A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing
L Gong, X Gao, N Yang, J Zhao, H Yang… - Journal of Pediatric …, 2019 - degruyter.com
Background A provisionary screening programme for 21-hydroxylase deficiency (21-OHD)
was initiated in Beijing in 2014. The aim of this study was to investigate the incidence and …
was initiated in Beijing in 2014. The aim of this study was to investigate the incidence and …
[PDF][PDF] Cribado neonatal en enfermedades endocrinológicas
A Rodríguez, M Sanz, E Dulín… - Rev Esp …, 2017 - endocrinologiapediatrica.org
Los Programas de Detección Precoz de Enferrmedades Endocrinas (Hipotiroidismo
congénito e Hiperplasia suprarrenal congenita por defecto de 21 hidroxilasa) están …
congénito e Hiperplasia suprarrenal congenita por defecto de 21 hidroxilasa) están …