Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency (original) (raw)
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Hormone Research in Paediatrics, 2011
There have been only a few studies on adrenarche in girls with classic congenital adrenal hyperplasia (CAH) showing that dehydroepiandrosterone sulfate (DHEAS) levels did not rise at the physiological age of adrenarche. Objective: Longitudinal analysis of serum DHEAS levels and Tanner stages in CAH children. Design: We studied 98 CAH patients (52 females), aged between 1 month and 18.0 years. All patients had genetically proven classic CAH and received steroid substitution therapy. Results: Serum DHEAS levels did not differ between CAH children and healthy children from the age of 1 year until 5–6 years. Beginning at the age of 7–8 years, there was a continuous but blunted increase in DHEAS levels in CAH boys and girls compared to healthy children. There was no correlation of DHEAS levels with the genotype, glucocorticoid dosage, auxological data, or quality of metabolic control. Pubarche (PH2) as well as gonadarche (G2) and thelarche (B2) occurred significantly earlier in CAH boys ...
Congenital Adrenal Hyperplasia due to 21Hydroxylase Deficiency
2010
More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to synthesize cortisol) are caused by 21- hydroxylase deficiency. Females with severe, classic 21-hydroxy- lase deficiency are exposed to excess androgens prenatally and are born with virilized external genitalia. Most patients cannot syn- thesize sufficient aldosterone to maintain sodium balance and may develop potentially fatal "salt wasting"
Long-Term Outcome of Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency
The American Journal of the Medical Sciences, 2012
with normal BMD. Overweight was found in 21 patients (47%). There was a significantly positive correlation between HOMA and BMI (p ! 0.001), and between HOMA and 17-OHP levels (p = 0.016). Conclusions: Adult patients with CAH treated with long-term glucocorticoids are at risk for decreased BMD, increased BMI, and disturbed reproductive function.
CONGENITAL ADRENAL HYPERPLASIA OWING TO 21-HYDROXYLASE DEFICIENCY
Endocrinology and Metabolism Clinics of North America, 2001
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a disorder that results in decreased biosynthesis of cortisol and, in some cases, aldosterone. CAH also results in increased secretion of the anabolic steroid androstenedione and the mildly salt-wasting steroids progesterone and 17-hydroxyprogesterone?
CLINICAL PROFILE OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFIICIENCY
National Journal of Medical Research, 2016
Introduction: 21 Hydroxylase deficiency is the most common enzymatic deficiency seen in XX-DSDs. 11-deoxycorticosterone and 11-deoxycortisol are deficient in the most-severe, “salt-wasting” form of this disease. This study aimed to see clinical profile of CAH patients in a tertiary care hospital. Methodology: This study was carried over a period of 36 months. All patients who presented to hospital with features suggestive of congenital adrenal hyperplasia were examined thoroughly. These patients were evaluated for possibility of congenital adrenal hyperplasia after their initial resuscitation and stabilization. Results: Over a period of 36 months, 40 patients with congenital adrenal hyperplasia were diagnosed. We diagnosed 32 cases as salt losing CAH. Median age of presentation was 36 days with range from 1- 90 days. 20 patients presented with recurrent vomiting, refusal of feeds, lethargy and dehydration. 23 of 32 patients presented in shock. 16 patients were products of consanguineous marriage. 26 cases had hyponatremia (<135mg/litre) at presentation. 17 patients had hyperkalemia (serum potassium>5.5mg/litre) at admission. 7 cases had hypoglycemia at presentation. 6 patients were diagnosed as having simple virilizing CAH. One patient presented at 5 years of age with precocious puberty and another presented during evaluation of undescended testis at age of four and a half years. Conclusion: Congenital adrenal hyperplasia is a unique disorder due to very adverse outcomes and even death resulting from enzyme deficiency if left untreated; and associated social taboos There is a need to start neonatal screening for CAH in our country.
Congenital Adrenal Hyperplasia - The Main Effect of 21-Hydroxylase Deficiency
IntechOpen eBooks, 2022
Congenital adrenal hyperplasia (CAH) consists of a group of autosomal recessive disorders resulting from enzymatic defects in steroidogenesis. More than 95% of CAH cases result from a deficiency of the 21-hydroxylase enzyme, which leads to cortisol deficiency, with or without aldosterone insufficiency, and also an excess of androgen. The clinical spectrum varies from milder symptoms to severe cases settled by the functional impairment of the corresponding pathogenic variant in the CYP21A2 gene. The two major forms of CAH caused by 21-hydroxylase deficiency are the classical form and the non-classic, or late onset form. There are two subtypes of the classic form: salt wasting and simple virilized. Diagnosis is clinically confirmed by 17OH-progesterone measurements, although genotyping is now progressively assuming an essential role for characterising patients. Genotyping is sometimes challenging, due to the existence of the highly homologous CYP21A1P pseudogene. The 21-hydroxylase enzyme is encoded by the CYP21A2 gene, where most of the pathogenic variants defects are due to meiotic recombination phenomena events between the CYP21A2 and CYP21A1P. Complete gene analysis is recommended to obtain a correct diagnosis and a better understanding of the underlying mechanisms of the disease in patients with CAH, and is relevant for prognosis and for prescribing the appropriate type of genetic counselling.
Human Reproduction, 2008
BACKGROUND: Low pregnancy rate has been reported in women with congenital adrenal hyperplasia (CAH) and little information on pregnancy and children is known. METHODS: In a Swedish study, 62 adult women with CAH, aged 18-63 years, and 62 age-matched controls were followed-up. Medical records, including those concerning pregnancies and deliveries, were examined and the 21-hydroxylase genotype of patients was noted. All women answered a questionnaire concerning sexual and reproductive health including health of the children. RESULTS: Pregnancy and delivery rates were significantly lower in women with CAH (P < 0.001, P < 0.0056, respectively), and the severity of the 21-hydroxylase-mutation correlated with the reduced number of children born. More women with salt-wasting CAH were single and had not attempted pregnancy. Pregnancies were normal except for a significantly increased incidence of gestational diabetes in CAH patients (P < 0.0024). The children had normal birthweight and no malformations were observed. A later follow-up of the children showed a normal intellectual and social development. The sex ratio of the offspring differed significantly, with 25% boys in the CAH group compared with 56% among controls (P < 0.016). CAH women had more gynaecological morbidity during menopause. CONCLUSIONS: Pregnancy and delivery rates are reduced in women with CAH mainly due to psychosocial reasons. The outcome of children did not differ from controls. The unexpected sex ratio in children born to mothers with CAH warrants further research.