Congenital lipoid adrenal hyperplasia, the most severe form of congenital adrenal hyperplasia, is caused by mutations in the steroidogenic acute regulatory protien (StAR). It is characterized by failure of synthesis of all three classes of adrenal steroids and massive accumulation of lipids and cholesterol in the adrenal cortex. The computed tomography (CT) unequivocally delineated massively enlarged adrenal glands of fat-tissue attenuation, enabling early diagnosis and replacement therapy. We report a case of congenital lipoid adrenal hyperplasia, in which CT established that lipoid deposition at the adrenal cortex disappeared after the adrenal hormone replacement therapy.
Adrenal Cortex ; Adrenal Glands ; Adrenal Hyperplasia, Congenital ; Cholesterol ; Early Diagnosis* ; Hormone Replacement Therapy ; Hyperplasia* ; Steroids

Spectacular advances in molecular genetics have enabled the molecular characterisation of many genetic disorders. The clinical applications include: (i) identification of pre-symptomatic and symptomatic affected individuals (monogenic diseases), allowing for early treatment and prevention of complications, (ii) carrier testing for genetic counselling, (iii) pharmacogenetic testing to guide medical treatment, and (iv) susceptibility testing (in polygenic diseases) to determine the risk of developing future disease. Using the model of congenital adrenal hyperplasia (CAH), direct mutational analysis can be applied to: (i) confirm the diagnosis when hormone assays have been equivocal, which would allow for early treatment and prevention of adrenal crisis, (ii) prenatal diagnosis and prenatal treatment in affected females to prevent or reduce prenatal virilisation, (iii) heterozygote carrier identification for genetic counselling, (iv) novel therapeutic applications to optimise treatment, including adjusting the steroid dose based on consistent genotype-phenotype correlations, so as to reduce the incidence of growth-inhibiting effects of steroid excess. However, molecular analysis can occasionally be complicated by multiple mutations on one allele, which may potentially affect genotype-phenotype correlations. Hence, molecular genetic analysis of CAH may eventually be adopted as a second tier confirmation of the disease, but is unlikely to replace the current first tier screening assays of precursor steroid metabolites proximal to the enzyme deficiency.
Adrenal Hyperplasia, Congenital ; diagnosis ; genetics ; Humans ; Molecular Diagnostic Techniques

No abstract available.
Adrenal Hyperplasia, Congenital* ; Prenatal Diagnosis* ; Steroid 21-Hydroxylase*

We report a case of a 16 years old girl who presented sequentially with primary amenorrhoea, hypertension and hypokalaemia. Eight years later, she was finally diagnosed with 17alpha-hydroxylase deficiency congenital adrenal hyperplasia. Previous antihypertensive medications were stopped. Hydrocortisone alone successfully maintained normotension and normokalaemia.
Adrenal Hyperplasia, Congenital/*diagnosis ; Adrenal Hyperplasia, Congenital/*etiology ; Diagnosis, Differential ; Hypertension/etiology ; Hypogonadism/etiology ; Hypokalemia/etiology ; Steroid Hydroxylases/*deficiency

Adrenal Hyperplasia, Congenital ; diagnosis ; Female ; Humans ; Infant, Newborn ; Male ; Neonatology ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: Genetic screening and prenatal diagnosis was performed in eighteen families with high risk of 21-hydroxylase deficiency (21-OHD) to provide valuable information for genetic counseling in these affected families. METHODS: First, multiplex ligation-dependent probe amplification (MLPA) combined with nested-PCR based Sanger sequencing was used to detect CYP21A2 gene mutations in probands and their parents of eighteen families, with seven probands had been dead. Second, paternity test was applied to exclude the possibility of maternal genomic DNA contamination, and fetal prenatal diagnosis is based on the mutations found in proband or parents of the family. RESULTS: Ten mutations were identified in these eighteen families, including large fragment deletion, I2G, E3del8bp, I172N, V281L, E6 cluster, L307Ffs, Q318X, R356W and R484Pfs. All probands were caused by homozygous or compound heterozygous mutations of CYP21A2 gene and their parents were carriers. By comparing short tandem repeat sites contamination of maternal genomic DNA was not found in fetal DNA. Prenatal diagnosis showed that five fetus were 21-OHD patients, four fetus were carriers and the other nine fetus were normal. CONCLUSION CYP21A2 gene mutation is the etiology of 21-OHD. Genetic testing of CYP21A2 could assist physicians in 21-OHD diagnosis and provided genetic counseling and prenatal diagnosis for parents who are at risk for having a child with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital ; diagnosis ; genetics ; Female ; Genetic Testing ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Steroid 21-Hydroxylase

Congenital adrenal hyperplasia, which is caused by the disorder of the enzyme for synthesizingadrenal hormones, results in hypertropy of the clitoris due to overporduction of adrenalandrogen. Diagnosis of the congenital adrenal hyperplasia can be obtained by the study ofsteroid levels in blood and urine. The blood levels of ACTH, testosterone and 17-hydroxyprogesteronewere increased and the concentration of 17-ketosteroid were decreased after the dexamethasonesuppression test. The internal genital organ was normal appearance on the pelvic CTscan. Clitoromegaly due to congenital adrenal byperplasia was corrected previously by the variousoperational procedures in which the clitoris was removed entirely for only physial appearance.However the sensitive function of the clitoris after the operative correction throughpuberty is to be preserved by the method "clitoroplasty" for preserving neurovascular supply tothe clitoris. The writer experienced a case of a 5-year-old girl with congenital adrenalhyperplasia and tried this clitoroplasty for surgical treatment of clitoromegly for preservation ofpostoperative sensitivity of the clitoris.
Adrenal Hyperplasia, Congenital* ; Adrenocorticotropic Hormone ; Child, Preschool ; Clitoris* ; Diagnosis ; Female ; Genitalia ; Humans ; Testosterone

Clinical characteristics and growth pattern were evaluated in 42 patients with classical congenital adrenal hyperplasia treated since diagnosis. And final height was evaluated in 16 patients who had reached final adult height with regard to clincal form, degree of hormonal control, and age of initial treatment. The results were as follows; 1) Among 42 patients with classical congenital adrenal hyperplasia, the male to female sex ratio was 1:1.8 (15 males and 27 females), and the frequency of the salt-wasting form (SW) and simple virilizing form (SV) was same (21 SW and 21 SV). 2) The length of time to initial treatment averated 4.2 months (range: 9 days-49 months) for salt-wasting form and 8.8 years (range: 1 month-21 years) for simple virilizing form. 3) In seven cases, precocious puberty developed during treatment and the average age on development was 6.8 years for salt-wasting form and 5.4 years for simple virilzing form. 4) The pattern of growth from birth throughout childhood in salt-wasting patients showed poor growth initially. The average height in simple virilizing patients was above the mean in the first years of life, declining steadily (falling below the mean by age 12), until the end of the growt period. 5) Bone ages were retarded initially in salt-wasting patients, thereafter accelerating by age 3, meanwhile in simple virilizing patients advanced initially. 6) In 16 patients who had reached final adult height, analysis of final height with regard to clinical form, degree of hormonal control, and age of initial treatment indicated that neither of them seem to after the height outcome. In conclusion, classical congenital adrenal hyperplasia patients seem to achieve final height consistently below the mean for the general population. Factors to affect the height outcome (clinical form, degree of hormonal control, age of initial treatment) may influence concomitently, and another factor may be present.
Adrenal Hyperplasia, Congenital* ; Adult ; Diagnosis ; Female ; Humans ; Male ; Parturition ; Puberty, Precocious ; Sex Ratio

Background: Impaired synthesis of adrenal hormones because of steroid 21 - hydroxylase deficiency is one of the common inborn errors of metabolism. The disease is caused by mutations in CYP21 gene and inherited as an autosomal recessive trait.Objectives: This study aims to detect some mutations in CYP21 gene as well as study the relationship between genotype - phenotype and the carriers in patients' family. Subjects and method:43 patients with classic 21 - hydroxylase deficiency and 10 patients' parents were analysed CYP21 gene by using PCR techniques with specific primer pairs. The data was collected and analysed by EpiInfo 6.04 and other common medical statistic method. Results:Among 43 children patients of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, the rate between male and female was equavalent. The most frequent mutation causing steroid 21 - hydroxylase deficiency was deletion 8bp of exon 3. Then, was splicing site mutation of intron 2. The mutation of exon 1 (Pr030Leu) was also detected. About genotype - phenotype relationship, nearly all deletions 8bp (80%) and 12 splicing mutations (87.5%) were associated with salt - wasting phenotype. Conclusion: Parents were the carriers corresponding to the autosomal recessive rule.
Adrenal Hyperplasia ; Congenital/ diagnosis ; pathology ; therapy ; Steroid 21-Hydroxylase/ diagnostic use

Congenital adrenal hyperplasia is an uncommon diagnosis in routine clinical practice. 21-hydroxylase deficiency, which is its most common subtype, may be diagnosed at birth in a female infant by virilisation or by features of salt wasting in both genders. However, other uncommon subtypes of this condition such as 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency may present much later in adolescence or adulthood. A high index of suspicion is necessary when evaluating children with hypertension, hypokalaemia, metabolic alkalosis or sexual infantilism.
Adolescent ; Adrenal Hyperplasia, Congenital ; diagnosis ; genetics ; Alkalosis ; diagnosis ; Diagnosis, Differential ; Female ; Humans ; Hypertension ; diagnosis ; Hypokalemia ; diagnosis ; Models, Biological ; Paralysis ; diagnosis ; Sexual Infantilism ; diagnosis ; Steroid 21-Hydroxylase ; metabolism