Congenital adrenal hyperplasia: An Indian experience

Maiti, Abhishek; Chatterjee, Sudip

doi:10.1111/j.1440-1754.2011.02104.x

Cited by 19 publications

(11 citation statements)

References 29 publications

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“…The female to male ratio was 1.4:1 in our study. Our results are in agreement with other retrospective studies [10] in South East Asia which have reported skewed male: female ratios, with female preponderance; rationale given was that the clinical manifestation was more obvious in females, hence the earlier consult [11] also reported that the female-tomale ratio was 1.25:1 in a retrospective, population-based cohort study done on all known patients with CAH in Sweden between 1910 and 2011 [11].…”

Section: Discussionsupporting

confidence: 83%

A Descriptive Study on Children with Congenital Adrenal Hyperplasia Attending Assiut University Children Hospital

Bakhit¹,

Mohammad²,

Metwalley³

2017

JCME

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Introduction: Congenital adrenal hyperplasia is a group of autosomal recessive disorders that result from the deficiency of one of several enzymes involved in the steroidogenic pathway for cortisol biosynthesis. The most common cause of CAH, accounting for 90% of cases, is 21-hydroxylase deficiency resulting from mutations or deletions in the CYP21A gene [1]. Less common causes of CAH are deficiencies in the enzymes 11β-hydroxylase, 3β-hydroxysteroid dehydrogenase, 17α-hydroxylase, steroidogenic acute regulatory protein, cholesterol sidechain cleavage enzyme and P450-oxidoreductase [2]. The symptoms of disease vary depending on the nature and severity of the enzyme deficiency as well as the sex of the individual. Approximately 75% of infants with classical CAH have the severe salt-wasting form of the disease with shock, dehydration, hyponatremia, and hyperkalemia leading to death [3]. Affected females have varying degrees of virilization of the external genitalia. The remaining 25% have the simple virilizing form of disease which is less severe. Non-classical CAH is generally late onset with symptoms such as hirsutism, infertility, acne and alopecia arising from androgen excess [4]. Untreated babies with classic CAH could experience a life threatening adrenal crisis. However, treatment in the form of replacement hormone therapy (hydrocortisone or dexamethasone to replace cortisol and fludrocortisone to replace aldosterone) corrects the hormone deficiencies [3]. Life-long medication is required to prevent the return of symptoms in individuals with classic CAH. In addition, newborns with ambiguous genitalia in CAH should undergo an appropriate work-up by a medical team consisting of a pediatric endocrinologist, urologist, surgeon, geneticist, and psychologist who should assist parents in making fully informed decisions regarding gender assignment and treatment options such as genital reconstructive surgery [5].Patients and methods: A descriptive study included children from 1 day to 18 years of age with congenital adrenal hyperplasia attending Assiut University Children Hospital over one year in the period from the 1st of June, 2016 to the 30th of May, 2017. Full thorough history and clinical examination were done to all cases: name, age, sex, residence, consanguinity, history of similar cases in the family, history of previous death due to neglected similar disease, methods of presentation as poor weight gain, poor feeding, persistent vomiting, dehydration and/or shock, convulsions, weight, height, blood pressure, signs of ambiguous genitalia, signs of dehydration, hyperpigmentation and signs of precocious puberty. All cases had been subjected to the following investigations: blood sugar, Na+, K+, blood gases, kidney function tests, karyotyping, hormonal analysis(17 OH progesterone, cortisol a.m and p.m testosterone, ACTH), pelvi-abdominal ultrasonography and magnetic resonanse imaging of the abdomen and pelvis.Results: 34 cases of congenital adrenal hyperplasia were included, of whom 8 cases were newly d...

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Section: Discussionsupporting

confidence: 83%

A Descriptive Study on Children with Congenital Adrenal Hyperplasia Attending Assiut University Children Hospital

Bakhit¹,

Mohammad²,

Metwalley³

2017

JCME

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“…As many as 33% of adult CAH patients are unemployed as a result of such complications (38), and 50% or more are ultimately lost to medical follow-up (40). Thus, current medical therapy for CAH is far from optimal, leaving at least one-third of patients with serious physical, emotional, and social disabilities attributable to their illness or its treatment (7,20).…”

Section: Mineralocorticoid Therapymentioning

confidence: 99%

Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes ofHSD3B2c.35G>A Homozygotes

Benkert

Young

Robinson

et al. 2015

The Journal of Clinical Endocrinology & Metabolism

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“…In a study by Miati et al, there were just 10 males out of a total of 45 children with classical CAH seen at a tertiary clinic, of which, 2 males were noted to have sustained cognitive impairment as a result of multiple episodes of severe hyponatraemic encephalopathy prior to diagnosis. The skewed sex ratio suggests that the affected males with SW-CAH may have died undetected, and that the burden of disease in India is even greater than reported [ 20 ]. Virilized female infants with SV-CAH and affected children of both sexes with precocious puberty may not be brought to medical attention for the fear of social stigma, resulting in delayed diagnosis [ 21 ].…”

Section: Disease Burden In India and Need Of Nbsmentioning

confidence: 99%

“…A study from southern India reported incorrect gender assignment in 6/24 (25%) girls, which was correctly reassigned in 5 babies within 1 month of birth, but at six years in the sixth patient [ 37 ]. A large dataset of 62 affected CAH patients (6 males) showed ambiguity in 56 (90%), with wrong gender assignment in five affected females [ 20 ].…”

Section: Challengesmentioning

confidence: 99%

CAH Newborn Screening in India: Challenges and Opportunities

Dabas

Bothra

Kapoor

2020

IJNS

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Congenital adrenal hyperplasia (CAH) is a common treatable disorder which is associated with life-threatening adrenal crisis, sexual ambiguity, and/or abnormal growth if undiagnosed. Newborn screening is a cost-effective tool to detect affected babies early after birth to optimize their treatment and follow-up. Newborn screening however is in its nascent stage in India where it is not yet introduced universally for all babies. The following review briefly highlights the challenges (e.g., lack of universal screening, healthcare resources) and opportunities (e.g., reduction in morbidity and early correct gender assignment in females) associated with newborn screening for CAH in a large Indian birth cohort.

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Congenital adrenal hyperplasia: An Indian experience

Abstract: The skewed male : female ratio suggested that a substantial proportion of males were being missed and consequently may die. Majority of the diagnosed patients (n= 55, 64%) have been lost to follow-up. Remaining patients could be reasonably controlled with standard therapy.

Cited by 19 publications

References 29 publications

A Descriptive Study on Children with Congenital Adrenal Hyperplasia Attending Assiut University Children Hospital

A Descriptive Study on Children with Congenital Adrenal Hyperplasia Attending Assiut University Children Hospital

Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes ofHSD3B2c.35G>A Homozygotes

CAH Newborn Screening in India: Challenges and Opportunities

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