Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency

…, M Alzubdi, RC Wilson, HS Al Azkawi… - Proceedings of the …, 2017 - National Acad Sciences
Mutations in 11β-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) cause an extraordinarily
rare autosomal recessive disorder, apparent mineralocorticoid excess (AME). AME is

Hormonal, anthropometric and lipid factors associated with idiopathic pubertal gynecomastia

I Al Alwan, H Al Azkawi, M Badri, H Tamim… - Annals of Saudi …, 2013 - annsaudimed.net
Hanan Al AzkawiHanan Al Azkawi … It is not an uncommon phenomenon and is
prevalent in 40% to 65% of pubertal males. However, prepubertal gynecomastia …

[HTML][HTML] Clinical characteristics and phenotype-genotype review of 25 Omani children with congenital hyperinsulinism in infancy: A one-decade single-center …

MK Al-Badi, HS Al-Azkawi, MS Al-Yahyaei… - Saudi Medical …, 2019 - ncbi.nlm.nih.gov
Objectives: To report the genotype-phenotype characteristics, demographic features and
clinical outcome of Omani patients with congenital hyperinsulinism (CHI). Methods: We …

[HTML][HTML] Two siblings with familial chylomicronemia syndrome: disease course and effectiveness of early treatment

H Al Azkawi, I AlAlwan - Case reports in medicine, 2010 - hindawi.com
There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride
levels in very young children. The authors report a family with two male siblings, 7 and 4 …

Genetic mutations associated with neonatal diabetes mellitus in Omani patients

A Al Senani, N Hamza, H Al Azkawi… - Journal of Pediatric …, 2018 - degruyter.com
Background: Neonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes
is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of …

[HTML][HTML] Newborn with dilated cardiomyopathy secondary to vitamin d deficiency

H Al Azkawi, A Al Mutair - Case Reports in Pediatrics, 2012 - hindawi.com
Hypocalcemia is a rare but reversible cause of dilated cardiomyopathy with limited cases
being reported in the literature. Vitamin D deficiency is the main cause of hypocalcemia in …

A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred

M Yau, HSA Azkawi, S Haider, A Khattab… - Annals of the New …, 2016 - Wiley Online Library
Apparent mineralocorticoid excess (AME) is a rare autosomal recessive genetic disorder
causing severe … We conclude that this novel mutation is responsible for AME in this family. …

[HTML][HTML] A novel mutation causing 17-β-hydroxysteroid dehydrogenase type 3 deficiency in an Omani child: first case report and review of literature

…, M Al-Kindi, G Al-Kusaibi, H Al-Azkawi… - Oman Medical …, 2015 - ncbi.nlm.nih.gov
This is the first case report in Oman and the Gulf region of a 17-β-hydroxysteroid dehydrogenase
type 3 (17-β-HSD3) deficiency with a novel mutation in the HSD17B3 gene that has not …

2nd Genetics Conference: Genetics in developing countries, unique challenges and opportunities: Sultan Qaboos University, 9–11 March 2014

…, A Al-Senani, H Al-Azkawi, S Al-Harthi… - Sultan Qaboos …, 2014 - europepmc.org
The global disease pattern has shifted, with a more dominant prevalence of chronic disease
such as type 2 diabetes, metabolic syndrome, cancer and cardiovascular diseases. The inter…

[CITATION][C] TWO SIBLINGS WITH FAMILIAL CHYLOMICRONEMIA SYNDROME

MD Hanan Al Azkawi, I AlAlwan