Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia

Milyani, Asmaa Adel; Al-Agha, Abdulmoein Eid; Alzanbagi, Mashael Abdullah

doi:10.1515/jpem-2018-0029

Cited by 9 publications

(8 citation statements)

References 13 publications

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“…These results were comparable with other results obtained at different Saudi studies [Table 5] and indicated that salt-losing manifestations became less frequent due to early diagnosis of these patients and stressed the importance of physicians' awareness and the need for a neonatal screening program for early detection and appropriate. [15262728]…”

Section: Discussionmentioning

confidence: 99%

Clinical patterns and linear growth in children with congenital adrenal hyperplasia, an 11-year experience

Shaikh

AlGhanmi

Awidah

et al. 2019

Indian J Endocr Metab

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Objective: An important goal in treating children with congenital adrenal hyperplasia (CAH) is to achieve a normal final adult height (FH). The aim of this study was to describe the clinical presentations and evaluate linear growth and possible factors affecting it in children with CAH. Methods: This is a retrospective study of 56 patients with CAH followed up in a tertiary center for 11 years. Patient's data including demographics, clinical, anthropometric, and laboratory information at presentation and during follow-up period were collected from medical records. Results: Fifty-six children (31 females) with CAH were seen at KAMC-Jeddah over 11-year period and 91% were 21-hydroxylase deficient. Of these, 46.4% had hyponatremia and 28.6% had hyperkalemia (21.4% had hyponatremia and hyperkalemia) at presentation. Positive family history was documented in 53.6%. Ambiguous genitalia were present in 72% of females and the majority required corrective surgery. Males had significantly decreased HtSDS versus females and females had significantly higher body mass index. The HtSDS of children who had had higher 17OHP or salt-losing crisis during treatment was significantly lower than those who had normal 17OHP and those who did not have salt-losing crisis, respectively. Conclusion: The final height outcome in our patients with CAH treated with glucocorticoids is lower than the population norm. Proper control of the disease clinically and biochemically through strict compliance to medical therapy as well as close clinical and laboratory monitoring is an important key to achieve normal final adult height in these patients. Side effects, including overweight, obesity, and hypertension are true risk associations and need timely diagnosis and early management.

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Section: Discussionmentioning

confidence: 99%

Clinical patterns and linear growth in children with congenital adrenal hyperplasia, an 11-year experience

Shaikh

AlGhanmi

Awidah

et al. 2019

Indian J Endocr Metab

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“…Of the cases with a history of consanguinity, 38% were first degree, and a family history of CAH was present in 25.6%. 52…”

Section: Congenital Adrenal Hyperplasiamentioning

confidence: 99%

“…One study looking at consanguinity rates in Saudi Arabia showed positive consanguinity between parents in 22.2% of cases. Of the cases with a history of consanguinity, 38% were first degree, and a family history of CAH was present in 25.6% 52 …”

Section: Clinical Evaluation and Differential Diagnosismentioning

confidence: 99%

Approach to androgen excess in women: Clinical and biochemical insights

Cussen

McDonnell

Bennett

et al. 2022

Clinical Endocrinology

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Androgen excess in women typically presents clinically with hirsutism, acne or androgenic alopecia. In the vast majority of cases, the underlying aetiology is polycystic ovary syndrome (PCOS), a common chronic condition that affects up to 10% of all women. Identification of women with non-PCOS pathology within large cohorts of patients presenting with androgen excess represents a diagnostic challenge for the endocrinologist, and rare pathology including nonclassic congenital adrenal hyperplasia, severe insulin resistance syndromes, Cushing's disease or androgen-secreting tumours of the ovary or adrenal gland may be missed in the absence of a pragmatic screening approach. Detailed clinical history, physical examination and biochemical phenotyping are critical in risk-stratifying women who are at the highest risk of non-PCOS disorders. Red flag features such as rapid onset symptoms, overt virilization, postmenopausal onset or severe biochemical disturbances should prompt investigations for underlying neoplastic pathology, including dynamic testing and imaging where appropriate. This review will outline a proposed diagnostic approach to androgen excess in women, including an introduction to androgen metabolism and provision of a suggested algorithmic strategy to identify non-PCOS pathology according to clinical and biochemical phenotype.

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“…4 Nonclassical forms have mild presentations that range from asymptomatic forms to late onset signs of hyperandrogenism. 4,5 Classic forms of congenital adrenal hyperplasia have 2 major clinical presentations. The most common is the salt wasting form, where the cortisol and aldosterone synthesis is affected.…”

Section: Casementioning

confidence: 99%

“…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

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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.

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Initial presentations and associated clinical findings in patients with classical congenital adrenal hyperplasia

Abstract: 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.

Cited by 9 publications

References 13 publications

Clinical patterns and linear growth in children with congenital adrenal hyperplasia, an 11-year experience

Clinical patterns and linear growth in children with congenital adrenal hyperplasia, an 11-year experience

Approach to androgen excess in women: Clinical and biochemical insights

Congenital Adrenal Hyperplasia—When Clinical Symptoms Are Missing

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