Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa

Ganie, Yasmeen; Aldous, Colleen; Balakrishna, Yusentha; Wiersma, R.

doi:10.7196/samj.2017.v108i2.12579

Cited by 7 publications

(8 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Y Gani et al, observed that among 34 children of CAH, 10 children with PPP due to CAH, developed CPP during their follow up in a endocrine clinic of South Africa. 16 Their CPP development was triggered by the chronic mild to moderate intermittent elevation of androgens in patients who are noncompliant with medication like our case. SV boys with advanced bone age of >12 years may have spontaneous CPP when treatment with hydrocortisone is initiated lately.…”

Section: Discussionmentioning

confidence: 58%

“…Here, the hydrocortisone suppresses the production of adrenal androgens and stimulates the release of gonadotrophins as inhibitory effects of adrenal androgens disappeared. 16 It appears that proper glucocorticoid replacement to achieve adequate control of hyperandrogenemia during early life might prevent development of CPP in these patients. 14 All the patients were on replacement therapy with hydrocortisone and GnRH analogue after evaluation and in our case, we followed the same footsteps.…”

Section: Discussionmentioning

confidence: 99%

“…14 All the patients were on replacement therapy with hydrocortisone and GnRH analogue after evaluation and in our case, we followed the same footsteps. 13,16 Conclusion: CAH causing PPP, may turn into CPP in boys. Early identification and treatment with hydrocortisone and GnRH analogue should be started as soon as possible, because delay in management can lead to permanent short stature, sexual anxiety and sexual abuse.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Central Precocious Puberty as a Complication of Congenital Adrenal Hyperplasia in a Boy: Case Report

Sharmin

Begum

Jahan

et al. 2021

Bangladesh J Child Health

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Central Precocious Puberty as a Complication of Congenital Adrenal Hyperplasia in a Boy: Case Report

Sharmin

Begum

Jahan

et al. 2021

Bangladesh J Child Health

View full text Add to dashboard Cite

show abstract

“…The salt-wasting crisis is more common in male newborn, as in the female sex, this condition is detected earlier owing to the virilization of external genitalia. 5,6 The other classic form is the simple virilizing, characterized by virilization of external genitalia, which is more easily detected in female newborns. In this case, a residual activity of 21hydroxylase maintains aldosterone and glucocorticoid production.…”

Section: Casementioning

confidence: 99%

Congenital Adrenal Hyperplasia—When Clinical Symptoms Are Missing

Liz¹,

Rocha

2019

Pediatr Emer Care

View full text Add to dashboard Cite

Background: Congenital adrenal hyperplasia is an autossomic recessive condition. The most common mutation is in the CYP21A2 gene situated in chromosome 6, leading to a 21-hydroxylase deficiency. Clinical presentation ranges from light hyperandrogenism to potentially fatal adrenal salt-losing crisis. In this study, we describe a case of congenital adrenal hyperplasia in a male newborn.Case: A male newborn was brought to the emergency department owing to an episode of regurgitation after feeding, followed by pallor of the skin and decreased activity. In physical examination, he was hypotonic with irregular respiratory pattern. Heart rate was 180 beats per minute, blood pressure levels were 93/63 mm Hg, and peripheral oxygen saturation was 80% to 84% associated with a sine wave pattern in the electrocardiogram. No scrotal hyperpigmentation was present. The venous blood gas analysis showed a metabolic acidosis (pH, 7.28; pCO2, 41 mmHg; sodium bicarbonate, 18.2 mmol/L; and base excess of −7), hyperkalemia (9.3 mmol/L), and hyponatremia (112 mmol/L). Based on these findings, the most probable diagnosis was a salt wasting form of congenital adrenal hyperplasia. Treatment of hyperkalemia and sodium deficit correction were initiated, as well as glycorticoid therapy. The concentration of 17-hydroxyprogesterone in dried blood spot confirmed the diagnosis.Conclusions: Because of the severity of this disease and the risk for rapid hemodynamical collapse, clinicians should be aware of this condition. In this specific case, we highlight the absence of testicular hyperpigmentation, which is a hallmark of this condition.

show abstract

“…Prior to the introduction of newborn screening (NBS) programs for CAH, the neonatal mortality was higher, especially among SW males. This increased mortality was suggested by both the low proportion of the SW form in relation to the SV form and the low male-to-female ratio in the Hospital das Clínicas cohort, as well as in other unscreened populations (9)(10)(11). The CAH NBS program has been applied in Sao Paulo/Brazil since 2013.…”

Section: Introductionmentioning

confidence: 99%

Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia

Lousada

Mendonca

Bachega

2021

Archives of Endocrinology and Metabolism

View full text Add to dashboard Cite

Primary adrenal insufficiency (PAI) is characterized by the inability of the adrenal cortex to produce sufficient amounts of glucocorticoids and/or mineralocorticoids. Addison's disease (AD) and congenital adrenal hyperplasia (CAH) are the most frequent disorders in adults and children, respectively. Despite the diagnostic advances and the availability of glucocorticoid and mineralocorticoid replacements, adrenal crisis (AC) is still a potentially lethal condition contributing to the increased mortality, not only during the first year of life, but also throughout life. Failure in increasing glucocorticoid doses during acute stress, when greater amounts of glucocorticoids are required, can lead to AC and an increase morbimortality rate of PAI. Considering a mortality rate of 0.5 per 100 patient years, up to 1,500 deaths from AC are expected in Brazil in the coming decade, which represents an alarming situation. The major clinical features are hypotension and volume depletion. Nonspecific symptoms such as fatigue, lack of energy, anorexia, nausea, vomiting, and abdominal pain are common. The main precipitating factors are gastrointestinal diseases, other infectious disease, stressful events (e.g., major pain, surgery, strenuous physical activity, heat, and pregnancy), and withdrawal of glucocorticoid therapy. Suspected AC requires immediate therapeutic action with intravenous (iv) hydrocortisone, fluid infusion, monitoring support, and antibiotics if necessary. AC is best prevented through patient education, precocious identification and by adjusting the glucocorticoid dosage in stressor situations. The emergency card, warning about acute glucocorticoid replacement, has high value in reducing the morbidity and mortality of AC.

show abstract

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa

Abstract: The diagnosis of CAH is delayed in males and females in both SV and CSW forms of the disorder, which probably contributes to under-reporting of cases and a high mortality rate.

Cited by 7 publications

References 17 publications

Central Precocious Puberty as a Complication of Congenital Adrenal Hyperplasia in a Boy: Case Report

Central Precocious Puberty as a Complication of Congenital Adrenal Hyperplasia in a Boy: Case Report

Congenital Adrenal Hyperplasia—When Clinical Symptoms Are Missing

Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia

Contact Info

Product

Resources

About