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The adrenogenital syndrome

Lee LL, Johnson RO, Low WC

Med J Malaysia, 1977 Dec;32(2):139-46.
PMID: 614480
Matched MeSH terms: Adrenal Hyperplasia, Congenital/diagnosis*; Adrenal Hyperplasia, Congenital/therapy
Fulltext Iris mammillations in two female siblings with congenital adrenal hyperplasia

Peyman M, Ong MJ, Iqbal T, Subrayan V

BMJ Case Rep, 2010;2010.
PMID: 22802477 DOI: 10.1136/bcr.08.2010.3266

Iris mammillations are dark brown, smooth, mound- or dome-shaped protuberances that are typically found on the anterior iris surface and are presumed to be congenital in origin. This congenital anomaly is usually unilateral and can be hereditary or sporadic. Lisch nodules in neurofibromatosis, tapioca melanoma of the iris, inflammatory iris granulomata and Cogan-Reese syndrome should be considered in the differential diagnosis. In this case report, the authors present a case of a bilateral iris mammillations in two siblings with congenital adrenal hyperplasia (CAH). To our knowledge, this is the first case where bilateral iris mammilations have been found to be associated with a systemic condition. Iris mammillations can be considered as one of the clinical signs in CAH in view of the pathogenesis discussed. Detailed ocular examination in CAH may reveal an increased incidence.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/complications*; Adrenal Hyperplasia, Congenital/genetics*
Research on quality of life in female patients with congenital adrenal hyperplasia and issues in developing nations

Zainuddin AA, Grover SR, Shamsuddin K, Mahdy ZA

J Pediatr Adolesc Gynecol, 2013 Dec;26(6):296-304.
PMID: 23507003 DOI: 10.1016/j.jpag.2012.08.004

Congenital adrenal hyperplasia (CAH) is the commonest cause of ambiguous genitalia for female newborns and is one of the conditions under the umbrella term of "Disorders of Sex Development" (DSD). Management of these patients require multidisciplinary collaboration and is challenging because there are many aspects of care, such as the most appropriate timing and extent of feminizing surgery required and attention to psychosexual, psychological, and reproductive issues, which still require attention and reconsideration, even in developed nations. In developing nations, however, additional challenges prevail: poverty, lack of education, lack of easily accessible and affordable medical care, traditional beliefs on intersex, religious, and cultural issues, as well as poor community support. There is a paucity of long-term outcome studies on DSD and CAH to inform on best management to achieve optimal outcome. In a survey conducted on 16 patients with CAH and their parents in a Malaysian tertiary center, 31.3% of patients stated poor knowledge of their condition, and 37.5% did not realize that their medications were required for life. This review on the research done on quality of life (QOL) of female patients with CAH aims: to discuss factors affecting QOL of female patients with CAH, especially in the developing population; to summarize the extant literature on the quality of life outcomes of female patients with CAH; and to offer recommendations to improve QOL outcomes in clinical practice and research.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/etiology; Adrenal Hyperplasia, Congenital/psychology*; Adrenal Hyperplasia, Congenital/therapy
Development of a low-serum medium for the production of monoclonal antibody against congenital adrenal hyperplasia by hybridoma culture

Chua GK

Prep Biochem Biotechnol, 2016 Oct 02;46(7):679-85.
PMID: 26760282 DOI: 10.1080/10826068.2015.1135450

Statistically designed experiments were used in developing a low-serum medium for the production of a diagnostic monoclonal antibody against congenital adrenal hyperplasia using hybridoma 192. A two-level half-fractional factorial design was used for screening six components (Minimum Essential Medium Eagle amino acids, 2-mercaptoethanol, ethanolamine, ferric citrate, zinc sulfate, and sodium selenite). The experimental design was then augmented to central composite design. The basal Dulbecco's modified Eagle's medium (DMEM; containing 4 mM L-glutamine, 1% antibiotic-antimycotic agent) supplemented with 0.4% by volume fetal bovine serum (FBS), 311.8 mM ferric citrate, 17.3 nM sodium selenite, and 4.5 mM zinc sulfate (LSD) was found to support the growth of the hybridoma. Specific cell growth rate in the LSD (0.033 ± 0.001/h) was slightly lower than in the control medium (i.e., basal DMEM supplemented with 2% FBS; 0.0045 ± 0.003/h). Nevertheless, the specific MAb production rate for LSD was higher (0.057 ± 0.015 pg/cell · h versus 0.004 ± 0.002 pg/cell · h in LSD and control, respectively). The antibody produced in the LSD showed high specificity and no cross-reactivity with the other structural resemblance's steroid hormones, revealing no structural changes owing to the new medium formulation developed. The new medium formulation effectively reduced the medium cost by up to 64.6%.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/immunology*
Fulltext A young woman with hypogonadism, hypertension and hypokalaemia

Toh VK, Yung CH

Med J Malaysia, 2009 Sep;64(3):242-3.
PMID: 20527279 MyJurnal

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.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/diagnosis*; Adrenal Hyperplasia, Congenital/etiology*
Case series of testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: A single centre experience

Karen Leong SW, Wu LL

Med J Malaysia, 2019 02;74(1):92-93.
PMID: 30846672

Testicular adrenal rest tumours (TART) are aberrant adrenal tissue within the testes (1). Although benign, they can lead to obstruction of the seminiferous tubules and infertility in patients with congenital adrenal hyperplasia (CAH). We report six boys who developed TART, a complication of CAH. Diagnosis was confirmed by ultrasound and testicular vein sampling of elevated 17-hydroxyprogesterone (17-OHP) levels. Glucocorticoids dosages were increased 1½-2 folds to suppress size of the aberrant adrenal tissues. Despite reductions in 17-OHP, the lesions remained unchanged. Three patients had testis-sparing surgery to excise the TART and to preserve normal testicular tissues.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/complications; Adrenal Hyperplasia, Congenital/diagnosis
Addisonian-Like Hyperpigmentation as an Indicator of Uncontrolled Congenital Adrenal Hyperplasia

Patel FB, Newman SA, Norton SA

Skinmed, 2016 02 01;14(1):53-4.
PMID: 27072733

A 20-year-old man of Indo-Malaysian ancestry presented with a complaint of increased facial pigmentation that he first noticed at age 13. He had congenital adrenal hyperplasia (21-hydroxylase deficiency, salt-wasting variant; OMIM 201910), diagnosed during infancy. Glucocorticoid and mineralocorticoid therapy was started at that time, but he had several episodes of salt craving during adolescence. During the past 7 years, the degree of facial pigmentation waxed and waned but never returned to baseline of early adolescence. Progressive skin darkening was also observed in annual family photos, which also showed a vast difference in skin tones between the patient and other members of his immediate family.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/complications*; Adrenal Hyperplasia, Congenital/drug therapy
A Multicenter Cross-Sectional Study of Malaysian Females With Congenital Adrenal Hyperplasia: Their Body Image and Their Perspectives on Feminizing Surgery

Zainuddin AA, Grover SR, Soon CH, Ghani NAA, Mahdy ZA, Manaf MRA, et al.

J Pediatr Adolesc Gynecol, 2020 Oct;33(5):477-483.
PMID: 32376362 DOI: 10.1016/j.jpag.2020.04.008

OBJECTIVE: To explore the impact of congenital adrenal hyperplasia (CAH) on body image in Malaysian females with CAH and to understand the perspectives of these young women and their parents toward feminizing genitoplasty (FG).
DESIGN: Multi-center cross-sectional study.
SETTING: Two tertiary medical centers in Malaysia.
PARTICIPANTS: A total of 59 patients with CAH who were raised as females and more than 10 years old, and their parents.
METHODS: The CAH respondents completed the validated and translated Body Image Disturbance Questionnaires (BIDQ). All CAH respondents and their parents underwent semi-structured interviews to explore their views on FG.
MAIN OUTCOME MEASURES: Body image disturbance score and perspectives on FG.
RESULTS: The 59 CAH respondents consisted of 12 children, 29 adolescents, and 18 adults. The majority were of Malay ethnicity (64.4%) with classical CAH (98.3%) and had undergone FG (n = 55, 93.2%). For the BIDQ scores, the median score (interquartile range) for general body image was 1.29 (0.71), range 1.00-3.29, whereas the genital appearance score was 1.07 (0.39), range 1.00-4.29, revealing a greater concern for general body parts over genitalia. With regards to FG, it was perceived as necessary. Infancy and early childhood were perceived as the best timing for first FG by both respondents and parents, most preferring single-stage over 2-stage surgery.
CONCLUSIONS: General body appearance concerns were greater than for genital appearance, with more impact on the patients' lives. Contrary to much international opinion, feminizing surgery was perceived as necessary and appropriate by CAH respondents and their families, and should be offered in infancy or early childhood. Future qualitative studies are recommended.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/psychology*; Adrenal Hyperplasia, Congenital/surgery
Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia

Balraj P, Lim PG, Sidek H, Wu LL, Khoo AS

J. Endocrinol. Invest., 2013 Jun;36(6):366-74.
PMID: 23027774 DOI: 10.3275/8648

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. Our objective was to identify the 21-hydroxylase active gene, CYP21A2 mutations in Malaysian 21-OHD patients using different techniques.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/genetics*; Adrenal Hyperplasia, Congenital/epidemiology
Fulltext Functioning adrenal adenoma in association with congenital adrenal hyperplasia

Rohana AG, Ming W, Norlela S, Norazmi MK

Med J Malaysia, 2007 Jun;62(2):158-9.
PMID: 18705452 MyJurnal

We report a case of a young hypertensive male who was first seen in 1998 with a right thalamic haemorrhage and uncontrolled hypertension. CT abdomen showed a right adrenal tumour and a hyperplastic left adrenal gland. Laparoscopic adrenalectomy performed followed by histopathological examination confirmed the diagnosis of adrenal adenoma. He subsequently presented to us again a year later with persistent hyperkalaemia and asymptomatic hyponatraemia. Further investigations strongly suggested the presence of isolated mineralocorticoid deficiency with normal cortisol levels. This was confirmed to be due to partial or late-onset congenital adrenal hyperplasia (CAH). We discuss the association of partial CAH and adrenal tumours and the unmasking of the mineralocorticoid deficiency following adrenalectomy.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/complications*
Fulltext Health-related quality of life of female patients with congenital adrenal hyperplasia in Malaysia

Zainuddin AA, Grover SR, Abdul Ghani NA, Wu LL, Rasat R, Abdul Manaf MR, et al.

Health Qual Life Outcomes, 2020 Aug 01;18(1):258.
PMID: 32738912 DOI: 10.1186/s12955-020-01515-9

BACKGROUND: This study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in Malaysia. The objectives were to attain socio-demographic and medical data on these Malaysian females with CAH and establish their health-related quality of life (HRQOL) in comparison to age matched diabetic controls.
METHODS: A cross-sectional study was conducted over 6 months in the two main tertiary centres for CAH patients in Malaysia. Participants including 59 female-raised CAH patients (mean age ± SD = 16.3 ± 4.2 years, range 10-28 years) compared to 57 age-matched female diabetic patients (mean age ± SD = 16.5 ± 3.4 years, range 10-26 years). Socio-demographic and medical profiles was obtained through semi-structured interviews. HRQOL of participants were evaluated utilising validated, Malay translated questionnaires which were age appropriate: Pediatric Quality of Life Inventory (PedsQL v4.0) scales for Child (8-12) and Adolescent (13-18) and Medical Outcome Survey 36-item Short Form version. These were then compared to the diabetic controls.
RESULTS: The CAH participants consisted of children (ages 10-12 years, n = 12), adolescents (ages 13-17 years, n = 29) and adults (≥ 18 years, n = 18). The majority were Malays (64.4%) and had salt-wasting CAH (67.8%). There were no significant differences between the total mean score of the HRQOL of the combined children and adolescents CAH group (total mean score ± SD = 81.6 ± 17.9, 95% CI = 75.6-87.6) when compared to age-matched diabetic patients (total mean score ± SD = 80.8 ± 11.0, 95% CI = 77.0-84.5, P = 0.81, effect size = 0.05); no significant difference between the adult CAH and diabetic controls in the physical [median score (IQR) CAH vs diabetics; 49.3 (11.4) vs. 50.2 (6.1), P = 0.60, effect size = 0.09] and the mental composite scores [median score (IQR) CAH vs. diabetics; 47.8 (14.1) vs. 50.0 (10.8), P = 0.93, effect size = 0.01].
CONCLUSIONS: The HRQOL of the Malaysian CAH cohort were comparable to the diabetic controls.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/psychology*
Usefulness and limitations of an in-house direct radioimmunoassay for 17-hydroxyprogesterone in serum

Lo MS, Ng ML, Wu LL, Azmy BS, Khalid BA

Malays J Pathol, 1996 Jun;18(1):43-52.
PMID: 10879224

Since conventional radioimmunoassays (RIA) for measurement of 17-hydroxyprogesterone (17-OHP) in serum samples require a laborious solvent extraction step, a direct and rapid in-house RIA was developed for early diagnosis and management of congenital adrenal hyperplasia (CAH). In-house rabbit anti-17-OHP antiserum, tritium labelled 17-OHP and dextran-coated charcoal were used in assay buffer with low pH 5.1 and preheated serum samples. Both inter- and intra-assay CVs were < 10% and the sensitivity was 1.2 nmol/l or 12 fmol/tube. Results from the direct assay correlated well with values from an extraction assay, r = 0.88 in samples from CAH patients, r = 0.85 in adults and children, 0.69 and 0.40 in term and preterm neonates respectively, 0.66 and 0.63 in luteal phase and third trimester pregnancy; p < 0.001 in all groups except p < 0.05 in preterm neonates. However, results from the direct assay were two to three times higher in serum samples from CAH patients, normal adults and children, but were five to seven times higher in pregnancy and term neonates and thirty times higher in preterm neonates. The markedly elevated levels measured by the direct assay are probably due to cross-reactivities with water-soluble steroid metabolites such as 17-hydroxypregnenolone sulphate and dehydroepiandrosterone sulphate (DHEAS). Although the direct assay is only useful as a screening test for preterm babies, it can be used for both diagnosis and monitoring of treatment of CAH in all other age groups.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/blood*
Measurement of androstenedione levels by an in-house radioimmunoassay

Lo MS, Ng ML, Wu LL, Khalid BA

Malays J Pathol, 1996 Jun;18(1):53-8.
PMID: 10879225

An in-house radioimmunoassay (RIA) for the measurement of androstenedione levels in serum was established and validated. Levels of androstenedione were measured by RIA using serum samples from various normal population groups and patients with congenital adrenal hyperplasia (CAH). Analytical recovery and linearity results were > 95%, while intra- and inter-assay CVs were < 10% and < 22% respectively. The assay sensitivity was 0.5 nmol/l or 25 fmol/tube. In normal population groups, the highest androstenedione levels were found in preterm neonates (1.6-12.4 nmol/l), followed by adult females (1.5-10.2 nmol/l), adult males (1.6-8.0 nmol/l) and term neonates (0.8-8.8 nmol/l), while the lowest values were observed in prepubertal children (0.5-3.4 nmol/l). There were no significant differences in diurnal variation and between follicular and luteal phases. The range of androstenedione levels in untreated or poorly controlled CAH patients (7.6-355.0 nmol/l, median 42.5 nmol/l, n = 20) were significantly higher (p < 0.001) than the upper normal limit of 3.4 nmol/L for prepubertal children. The normal androstenedione reference ranges for paediatric and adult groups have thus been established.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/blood*
Fulltext Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes

Zainuddin AA, Grover SR, Soon CH, Nur Azurah AG, Mahdy ZA, Wu LL, et al.

Front Pediatr, 2019;7:144.
PMID: 31058121 DOI: 10.3389/fped.2019.00144

Background: Girls born with congenital adrenal hyperplasia have virilized external genitalia. There is considerable debate regarding both the outcomes of feminizing genitoplasty and timing of the surgery in this population. Objective: To investigate outcomes of females 46,XX individuals with CAH in Malaysia, the surgical outcomes of feminizing genitoplasty (FG) and their attitudes toward surgery. Study Design: This is a cross-sectional study involving the two main tertiary centers in Malaysia. All 46,XX patients with CAH and raised female, who had undergone FG were identified and invited to participate. Data on socio-demographic, medical profiles, and attitudes toward surgery were collected. A standardized evaluation of the external genitalia was undertaken including the anatomic and cosmetic evaluation by independent gynecologists. Results: Of 61 individuals identified, 59 participated-consisting of children (n = 12), adolescents (n = 29) and adults (n = 18). All but one had classical CAH (98.3%) and had undergone FG (n = 55, 93.2%) with surgery mostly undertaken by pediatric surgeons trained in DSD work (n = 44, 74.6%). Complications overall were low (20.3%), with repeat surgery rate of 9.1%. External genital examination was performed in 38 participants. Overall 36.8% had absent clitoral glands and 39.5% had a persistent urogenital sinus and in 10.5%, no vaginal orifices were seen. Poor cosmetic outcomes were present in 42.1% with 55.3% recommended for further assessment under general anesthetic. Almost half participants did not venture an opinion on FG, those who did varied from having a positive attitude toward it (18 participants) to 3 opining that it should not be done, or avoided or delayed. From the participants, 35.5% preferred FG to be done early in life compared to 44.0% of the parents. Conclusions: The reoperation rates of the feminizing genitoplasty surgeries were low however due to the anatomic and cosmetic outcomes, reassessment of the external genitalia of these CAH patients may be required once they consider becoming sexually active as they may require further treatment. Many factors such as cultural sensitivities and access to medical treatment and late diagnoses have an impact on attitudes toward FG.

Matched MeSH terms: Adrenal Hyperplasia, Congenital
Fulltext Clinical presentation of congenital adrenal hyperplasia in selected multiethnic paediatric population

Thambiah, Subashini Chellapah, Zalinah Ahmad, Zarida Hambali, Malina Osman, Munia Mohd Zain, Fuziah Md Zain, et al.

Malaysian Journal of Medicine and Health Sciences, 2015;11(1):77-83.
MyJurnal

A clinical descriptive study was done to determine the sociodemographic, laboratory and clinical characteristics of patients with congenital adrenal hyperplasia (CAH) referred to Hospital Putrajaya, a tertiary endocrine centre in Malaysia. Electronic laboratory data of 51 CAH patients were obtained. The demographics and clinical details of the study population were acquired from a questionnaire completed by parents of participants. There were 25 males (49%) and 26 females (51%), of which, 58.8% were Malays. Median age of participants was 4 years whilst median age at diagnosis of CAH was two years. Parental consanguinity was documented in three patients (5.9%). Patients originated from Johor (19.6%), Selangor (19.6%), Negeri Sembilan (17.6%) and Kedah (13.7%). Majority of patients were diagnosed after one week of life (80.4%) although more females were diagnosed under the age of one week compared to males (p=0.041). Most females presented with ambiguous genitalia (42.3%) [p=0.001] whereas 72% of males presented with salt wasting (p=0.003). No significant associations between race and all other variables, though interestingly three Malay patients presented with ambiguous genitalia and hypertension. Equal gender distribution noted as expected in an autosomal recessive condition, although not in keeping with other Asian countries. Early diagnosis in females attributed to obvious genital ambiguity at birth. Varied clinical presentation, although in minority, necessitates genetic studies for prompt diagnosis and treatment. Considering that majority of patients presented with salt wasting and the age at diagnosis was delayed, the introduction of a neonatal screening programme is essential in Malaysia.

Matched MeSH terms: Adrenal Hyperplasia, Congenital
Fulltext Optimization of monoclonal antibodies purification expressed in H-192 cells using preparative native-polyacrylamide gel electrophoresis

Krishnan, Santhana, Mimi Sakinah Abdul Munaim, Zularisam Abdul Wahid, Chua, Yeo Gek Kee, Chew, Few Nee

Journal of Biochemistry, Microbiology and Biotechnology, 2015;3(1):21-25.
MyJurnal

Monoclonal antibodies (mAbs) are unique and specific drug molecules targeting the treatment of various diseases such as arthritis, immune disorders, infectious diseases, and cancer etc. Different methods such as antibody coupled affinity chromatography, hydrophobic interaction chromatography, etc., can be applied to purify mAbs from various sources. This article provides a simple, cost effective, preparative native-polyacrylamide gel electrophoresis (n-PAGE)technique to purify mAbs expressed in H-192 cells (Hybridoma murine cell lines) against an antigen i.e. 17-alpha-hydroxyprogesterone (17-OHP), which further can have diagnostic application to detect Congenital Adrenal Hyperplasia (CAH). Furthermore, different parameters such as concentration and volume of the feedstock (medium containing antibodies), pore size of gel, height of resolving gel etc. were optimized to obtain the maximum purity and yield of mAbs.

Matched MeSH terms: Adrenal Hyperplasia, Congenital

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