Phenotypic Variation of 46,XX Late Identified Congenital Adrenal Hyperplasia among Indonesians

Juniarto, Achmad Zulfa; Ulfah, Maria; Ariani, Mahayu Dewi; Utari, Agustini; Faradz, Sultana Mh

doi:10.15605/jafes.033.01.02

Cited by 4 publications

(6 citation statements)

References 20 publications

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“…CAH management in developing countries is challenging. Newborn screening for CAH is not available in many developing countries (729,730), delaying diagnosis and increasing mortality, particularly in boys who lack atypical genitalia (731,732). Pediatric endocrinologists are scarce (560,730,733), and late referral to specialized centers may delay diagnosis and treatment.…”

Section: Cah In Developing Countries -Challenges and Limitationsmentioning

confidence: 99%

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

et al. 2021

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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21- hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000 there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in congenital adrenal hyperplasia with special attention to these new developments.

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Section: Cah In Developing Countries -Challenges and Limitationsmentioning

confidence: 99%

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

et al. 2021

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“…Patients with simple virilizing CAH show mild cortisol deficiency and androgen excess, with clitoromegaly (100%) and skin hyperpigmentation (87%) reported as the most common features [ 6 ]. Hirsutism, oligomenorrhea or amenorrhea, and decreased fertility are also common symptoms [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

“…Steroid 21-hydroxylase deficiency (21-OHD) caused by mutations in the CYP21A2 gene located on the short arm of chromosome 6 [ 3 ] accounts for more than 90% of CAH cases [ 4 ].CAH resulting from 21-hydroxylase deficiency can be classified into two clinical forms according to the complete deficiency and partial deficiency of enzyme activity: classical (either salt-wasting or simple virilization) and non-classical [ 5 ]. Compared with salt-wasting CAH, patients with simple virilizing or non-classical CAH produce an part insufficient amount of cortisol leading to slight symptoms of hypocortisolism, the clinical symptoms and signs caused by hyperandrogenism are more prominent [ 6 ]; thus it is common for such women to be misdiagnosed with polycystic ovary syndrome.…”

Section: Introductionmentioning

confidence: 99%

Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report

et al. 2022

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Background Congenital adrenal hyperplasia (CAH), characterized by defective adrenal steroidogenesis, is transmitted in an autosomal recessive manner. Mutations in the steroid 21-hydroxylase gene CYP21A2 causing steroid 21-hydroxylase deficiency account for most cases of CAH. The c.145l-1452delGGinsC gene mutation is rare, and only one case has been reported, but the form of gene mutation is different from this case, resulting in different clinical phenotype. The most common pathogenic genotype of CAH is a homozygous or compound heterozygous mutation, but CAH patients homozygous for the p.I173N mutation and heterozygous for the c.1451-1452delGGinsC mutation have not been reported previously. We report herein a familial case of CAH, in which both siblings carry the rare homozygous p.I173N mutation and heterozygous c.1451-1452delGGinsC mutation. Case presentation The proband showed amenorrhea, infertility, polycystic ovaries, and increased levels of androgen, rather than the typical clinical manifestations of CAH such as an adrenal crisis or masculine vulva, so was misdiagnosed with polycystic ovary syndrome for many years. Following a correct diagnosis of CAH, she was given glucocorticoid treatment, her menstruation became more regular, and she became pregnant and delivered a healthy baby girl. Conclusions The genotypes may be p.I173N homozygous or p.I173N/c.1451-1452delGGinsC heterozygous, both mutations could be pathogenic. This complex combination of mutations has not been reported or studied before. Through the report and analysis of this genotype, the content of CAH gene bank is enriched and the misdiagnosis rate of CAH is reduced.

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“…Congenital adrenal hyperplasia (CAH) is the most common cause of ambiguous genitalia in 46,XX disorders (differences) of sex development (DSD) in a newborn characterized by enzyme deficiency involved in steroidogenesis in the adrenal gland, in which 90% of cases are caused by 21-hydroxylase deficiency (Idris et al, 2014 ; Juniarto et al, 2018 ; Pezzuti et al, 2014 ; Tsuji et al, 2015 ; Zainuddin et al, 2019 ). This will result in cortisol and aldosterone deficiency and excessive androgen hormone production (Speiser et al, 2018 ; Szulczewski et al, 2017 ), with the incidence ranging from ~1:14,000 to 1:18,000 (Speiser et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

“…However, this number surged to 439 children (303 (69%) girls and 136 (31%) boys) in 2020 (Armstrong et al, 2020 ). In addition, the Center for Biomedical Research (CEBIOR) recorded 84 patients with CAH were evaluated from 2004 to 2016 jointly by a multidisciplinary team from the Dr. Kariadi Hospital and Faculty of Medicine Diponegoro University, Semarang (Juniarto et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

Factors influencing illness uncertainty in parents of children with congenital adrenal hyperplasia in a developing country: A cross-sectional study

Larasati¹,

Saktini²,

Winarni³

et al. 2023

Belitung Nurs J

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Background: Illness uncertainty in parents of children with congenital adrenal hyperplasia (CAH) refers to parents’ inability to create meaning in events related to their children having CAH. This may influence their role in caring for children with CAH. Objective: The study aimed to determine factors associated with illness uncertainty experienced by parents of children with CAH in a developing country. Methods: A cross-sectional study was conducted on 80 parents (43 mothers and 37 fathers) of children with CAH, selected using consecutive sampling methods. The Parent’s Perception of Uncertainty Scale (PPUS) was used to measure the illness uncertainty levels. Data were collected from March 2020 to October 2020. Independent t-test and chi-square test were used to determine factors (parent’s gender, age, educational level, monthly household income, number of children with CAH, history of child death due to CAH, child’s age when first diagnosed with CAH, duration of therapy, gender change, type of CAH (salt wasting/SW or simple virilizing/SV), current gender, and genitoplasty) influencing illness uncertainty in parents. Results: The mean scores of PPUS were 42.3 ± 12.91, and the majority of parents had a low PPUS score (49; 61%). Parents of children with SW-CAH showed higher uncertainty (44.2 ± 12.77) than those with SV-CAH (32.6 ± 8.86; p = 0.003). Parents who lost their children due to CAH were more likely to report a moderate illness uncertainty than parents who never experienced child mortality due to CAH (χ2(1, 80) = 4.893; p = 0.027). Conclusion: The factors significantly affecting uncertainty in parents of children with CAH determined in this study might help healthcare professionals, including nurses, to play a pivotal role in giving pertinent information regarding their children’s health, disease, and therapy to help manage parental uncertainty.

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Phenotypic Variation of 46,XX Late Identified Congenital Adrenal Hyperplasia among Indonesians

Cited by 4 publications

References 20 publications

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report

Factors influencing illness uncertainty in parents of children with congenital adrenal hyperplasia in a developing country: A cross-sectional study

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