Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia
-
Asmaa Adel Milyani
,
Abdulmoein Eid Al-Agha
and
Mashael Al-zanbagi
Abstract
Background:
The objective of this study was to investigate the initial presenting features of children with classical congenital adrenal hyperplasia (CAH).
Methods:
This is a descriptive retrospective study over a period of 5 years. Data analysis was performed using Statistical Package for Social Science.
Results:
Ambiguous genitalia (AG) was the commonest initial presentation marking 50.7% of the patients. On the other hand, 33.3% presented with a salt-losing crisis, 4.1% of whom presented with shock, while 14.5% had a combined presentation of both AG and a salt-losing crisis.
Conclusions:
CAH should be highly suspected in all females born with AG. Contrarily, affected male newborns more frequently present with a salt-losing crisis, and considering the recent institution of newborn screening in Saudi Arabia, earlier detection in these children is anticipated.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Editorial
- Congenital hypothyroidism
- Original Articles
- Does initial dosing of levothyroxine in infants with congenital hypothyroidism lead to frequent dose adjustments secondary to iatrogenic hyperthyroidism on follow-up?
- Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013–2015
- The etiologies and incidences of congenital hypothyroidism before and after neonatal TSH screening program implementation: a study in southern Thailand
- Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey
- Risk of hypoglycemia in youth with type 2 diabetes on insulin
- Metabolic risk factors in adolescent girls with type 1 diabetes
- Definition of reference ranges for β-isomerized carboxy-terminal telopeptide collagen type I for children and adolescents
- Brown adipose tissue in young adults who were born preterm or small for gestational age
- Circulating soluble RAGE and cell surface RAGE on peripheral blood mononuclear cells in healthy children
- Predictors of bone maturation, growth rate and adult height in children with central precocious puberty treated with depot leuprolide acetate
- Trends in the use of puberty blockers among transgender children in the United States
- Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia
- Cardiac examination in children with Laron syndrome undergoing mecasermin therapy
- Five novel ALMS1 gene mutations in six patients with Alström syndrome
- Case Reports
- Cutaneous mucormycosis as a presenting feature of type 1 diabetes in a boy – case report and review of the literature
- Severe lactic acidosis in an extremely low birth weight infant due to thiamine deficiency
- Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency
