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"ABSTRAKLatar Belakang: Hiperplasia adrenal kongenital HAK paling banyak disebabkan oleh defisiensi enzim 21-hidroksilase. Pajanan kortisol yang rendah dan androgen yang berlebihan pada masa prenatal dan/atau postnatal serta glukokortikoid berlebihan akibat terapi menyebabkan komplikasi medis dan psikososial. Anak HAK dapat mengalami masalah perilaku dan gangguan kognitif akibat penyakit atau terapi yang diberikan. Kondisi undertreatment dan overtreatment dapat memengaruhi perilaku dan kognitif. Identifikasi dini terhadap risiko masalah perilaku dan gangguan fungsi kognitif penting untuk intervensi klinis dan psikoedukasi terhadap anak.Tujuan: Mengetahui prevalens masalah perilaku dan gambaran fungsi kognitif anak HAK serta mengetahui risiko relatif terjadinya gangguan kognitif pada anak HAK yang memiliki masalah perilaku.Metode: Penelitian ini merupakan studi deskriptif-analitik dengan metode potong lintang, dilakukan di Rumah Sakit Cipto Mangunkusumo RSCM pada Januari ndash; Maret 2017. Pemeriksaan masalah perilaku menggunakan instrumen strengths and difficulties questionnaire SDQ , sedangkan pemeriksaan fungsi kognitif menggunakan instrumen the Wechsler Abbreviated Scale of Intelligence Scale WAIS untuk anak. Subyek pada penelitian ini adalah pasien HAK usia 4 ndash; 18 tahun. Analisis statistik dilakukan untuk mencari hubungan serta risiko relatif gangguan kognitif dengan masalah perilaku.Hasil: Penelitian dilakukan terhadap 20 subyek. Prevalens masalah perilaku sebesar 80 16/20 , dengan masalah terbanyak adalah masalah emosional 40 . Rerata IQ full scale adalah 96,5 20 . Terdapat 40 subyek dengan full scale IQ di bawah normal. Perbedaan bermakna secara statistik didapatkan antara rerata IQ full scale dengan hiperaktivitas

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ABSTRACTBackground Congenital adrenal hyperplasia CAH is most commonly caused by a 21 hydroxylase enzyme deficiency. Low and excessive androgen exposure during prenatal and or postnatal periods and excessive glucocorticoids from therapy leads to medical and psychosocial complications. Children of CAH can experience behavioural problems and cognitive impairment due to the disease or therapy. Undertreatment and overtreatment can affect behavior and cognitive. Early identification to the risk of behavioural problems and impaired cognitive function is important for clinical interventions and psychoeducationAim To identification the prevalence of behavioral problems and the cognitive function of children with CAH and to know the relative risk of cognitive impairment in children who have behavioural problems.Method This is a descriptive analytic study with cross sectional method, held at Cipto Mangunkusumo Hospital in January to March 2017. Examination of behavioral problems using strengths and difficulties questionnaire SDQ instrument, while examining cognitive function using the Wechsler Abbreviated Scale of Intelligence Scale WAIS for children. Subjects in this study were CAH patients aged 4 18 years. Statistical analysis was performed to find the relationship as well as the relative risk of cognitive impairment with behavioural problems.Result This study was conducted on 20 subjects. The prevalence of behavioural problems is 80 16 20 , with most problems being emotional problems 40 . The full scale IQ average is 96.5 20 . Forty percents of subjects have a full scale IQ under average. A statistically significant difference was found between mean full scale IQ and hyperactivity p "

"Hiperplasia adrenal kongenital (HAK) adalah gangguan yang ditandai dengan defek pada enzim jalur steroidogenesis adrenal. Lebih dari 90% disebabkan mutasi pada CYP21A2 yang mengkode enzim 21-hidroksilase (21-OH). Monitoring tata laksana pasien HAK cukup sulit dicapai dengan menjaga keseimbangan antara overtreatment dan undertreatment.Penelitian bersifat cross sectional dilakukan di RSCM berlangsung selama 7 bulan (Juni-Desember 2020). Pemilihan sampel dilakukan dengan consecutive sampling dengan total 142 sampel. Sampel pasien HAK sebanyak 71 pasien, serta pemilihan sampel kontrol dilakukan dengan matching jenis kelamin dan usia. Kelompok HAK dilakukan pemeriksaan kadar 17-hidroksiprogesteron (17-OHP) serta androsteron, etiokolanolon urin dan rasio androsteron/etiokolanolon urin (A/E). Uji korelasi dilakukan antara androsteron, etiokolanolon, rasio A/E dengan 17-OHP. Kelompok kontrol dilakukan pemeriksaan androsteron, etiokolanolon urin dan rasio A/E. Hasil kedua kelompok dilakukan komparasi.Dari 71 kelompok HAK dan 71 kelompok kontrol mempunyai karakteristik dasar yang sebanding. Kadar androsteron kelompok HAK dibandingkan dengan kelompok kontrol berbeda bermakna (683,89(29,42-61061,43) vs 123,97(30,16- 16463,05) ng/mL;p<0,001). Kadar etiokolanolon kelompok HAK berbeda bermakna dibandingkan dengan kelompok kontrol (235,88(12,77-78446,65) vs 70,96(12,61-17332,62)ng/mL;p<0,001). Rasio A/E kelompok HAK berbeda bermakna dibandingkan dengan kelompok kontrol (2,31(0,37-40,12) vs 1,99(0,52- 5,45); p0,003). Kadar androsteron, etiokolanolon, rasio A/E mempunyai korelasi positif dengan kadar 17-OHP (r=0,505; r=0,367; r=0,313).Kesimpulan: Androsteron, etiokolanolon dan rasio A/E mempunyai kadar yang lebih tinggi pada pasien HAK. Androsteron mempunyai korelasi sedang, etiokolanolon dan rasio A/E mempunyai korelasi lemah terhadap 17-OHP.

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Congenital adrenal hyperplasia (CAH) is a disorder characterized by defects in one of the enzymes of the adrenal steroidogenesis pathway. More than 90% of cases are due to mutations in CYP21A2, the gene coding for 21-hydroxylase (21-OH) enzyme. Treatment monitoring in CAH patients is quite difficult to achieve due to fine balance of overtreatment and undertreatment.

Cross sectional study was conducted in RSCM for 7 months (June-December 2020). Consecutive sampling was used with total 142 samples. There were 71 patients CAH were included in this study. Control samples were selected by matching age and sex. In CAH group, 17-hydroxyprogesterone (17-OHP), urine androsterone, etiocholanolone, and ratio androsterone/etiocholanolone (A/E) were measured. Correlations were measured between androsterone, etiocholanolone, ration A/E with 17-OHP. In control sample urine androsterone, etiocholanolone, and ratio androsterone/etiocholanolone (A/E) were also measured. These results were compared between two groups.

In 71 CAH group and 71 control group had almost same characteristics. Androsterone level in CAH group had a significant different compared to the control group (683.89(29.42-61061.43) vs 123.97(30.16-16463.05) ng/mL;p<0.001). Etiocholanolone level in CAH group had a significant different compared to the control group (235.88(12.77-78446.65) vs 70.96(12.61- 17332.62)ng/mL; p<0.001). Ratio A/E n CAH group had a significant different compared to the control group (2.31(0.37-40.12) vs 1.99(0.52-5.45); p=0.003). Androsterone, etiocholanolone and ratio A/E had positive correlation with 17-OHP level (r=0.5050; r=0.367; r=0.313).

Conclusions: Androsterone, etiocholanolone, and ratio A/E had higher level in CAH subjects. Androsterone had intermediate correlation with 17-OHP, meanwhile etiocholanolone and ratio A/E had weaker correlation."

"Latar belakang. Hiperplasia adrenal kongenital (HAK) adalah suatu kelainan genetik yang bersifat autosomal resesif. Lebih dari 90% kasus terjadi akibat defisiensi enzim 21-hidroksilase (21-OHD) yang disebabkan oleh mutasi gen CYP21.Tujuan. Mengetahui profil mutasi CYP21 terhadap profil klinis anak dengan HAK di Indonesia.Metode. Studi deskriptif retrospektif dilakukan selama Oktober-Desember 2014. Subjek adalah anak HAK yang terdaftar di Klinik Endokrinologi Anak RSCM dan pernah dilakukan pemeriksaan mutasi gen CYP21. Data diambil dari anamnesis terhadap orangtua, rekam medis dan register HAK tahun 2009-2014.Hasil penelitian. Didapatkan total subjek sebesar 45 subjek (37 perempuan, 8 lelaki) dengan profil klinis tipe salt wasting (SW) 33 subjek, simple virilizing (SV) 10 subjek, dan non-classic (NC) 2 subjek. Median usia saat terdiagnosis pada tipe SW usia 1 bulan (0-3 bulan), tipe SV usia 3 tahun (2-6 tahun), tipe NC usia 5 tahun. Keluhan utama terbanyak adalah genitalia ambigus (60%). Subjek perempuan mengalami kesalahan penentuan jenis kelamin saat lahir (32,4%) dan memiliki perilaku maskulin (24,3%). Tiga jenis mutasi ditemukan pada dua subjek, dua jenis mutasi ditemukan pada 19 subjek, mutasi R356W saja dialami oleh 9 pasien, dan mutasi I172N saja ditemukan pada 15 pasien. Mutasi I172N ditemukan pada 80% alel, R356W pada 66,7% alel, dan delesi/LGC pada 4,4% alel. Tipe SW yang mengalami mutasi delesi/LGC dan atau R356W sebesar 63,6%.Simpulan. Manifestasi klinis terbanyak pada penelitian ini adalah tipe SW dengan mutasi R356W dan atau delesi/LGC. Pemeriksaan mutasi gen CYP21 bermanfaat untuk konseling genetik, diagnosis prenatal dan tata laksana pada keluarga yang memiliki risiko HAK.

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Background. Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder. More than 90% of cases are due to 21-hydroxylase deficiency which caused by CYP21 mutation.

Objective. Study the characteristic of CYP21 mutation and clinical manifestation in children with CAH in Indonesia.

Method. A descriptive retrospective study was performed during October-December 2014. Subjects were CAH children who were admitted to Pediatric Endocrinology Cipto Mangunkusumo hospital and tested for CYP21 gene mutation. Data were taken based on parents? interview, medical records and CAH registry during 2009-2014.

Results. A total of 45 subjects (37 girls, 8 boys) participated, with clinical profile of salt wasting (SW) type found in 33 subjects, simple virilizing (SV) in 10 subjects, and non-classical (NC) type in two subjects. Median age of diagnosis in SW type is 1 month old (0-3 month), SV type is 3 years old (2-6 years), NC type is 5 years old. Ambigous genitalia was the major chief complaint (60%). Girls experienced gender reassessment (32,4%) and show masculine behavior (24,3%). Three types of mutations were found in two patients, two types of mutations (R356W and I172N) in 19 patients, only R356W mutation in 9 patients, and only I172N mutation in 15 patients. I172N mutation was found in 80% alleles, followed by R356W in 66,7% alleles, and deletion/LGC in 4,4% alleles. In the SW form, 63,6% subjects had deletion and/or R356W mutation.

Conclusion. The most common clinical manifestation in this study is SW type with deletion/LGC and or R356W mutation. CYP21 mutation analysis may provide important information for genetic counseling, prenatal diagnosis and management of families at risk for CAH."

"Latar belakang. Obesitas pada anak HAK dapat terjadi akibat penyakit dan terapi glukokortikoid. Belum diketahui prevalens gizi lebih dan obesitas pada anak HAK di Indonesia serta faktor-faktor yang berhubungan.Tujuan. Mengetahui prevalens gizi lebih dan obesitas anak HAK dan faktor yang berhubungan (faktor penyakit, faktor terapi, dan faktor umum).Metode. Uji potong lintang pada anak HAK yang berobat di RSCM dan RS lain di Jabodetabek selama Maret-Juni 2013. Pencatatan data klinis, analisis diet, dan pemeriksaan kadar 17-hidroksiprogesteron (17-OHP) dilakukan pada setiap subjek.Hasil penelitian. Sebanyak 49 subjek (38 perempuan dan 11 lelaki, rentang usia 0,4-18,3 tahun) memenuhi kriteria inklusi dan eksklusi. Sebanyak 79,6% subjek adalah tipe salt wasting (SW) dengan median usia awal terapi 2,5 tahun lebih muda dibandingkan kelompok non-SW. Rerata dosis hidrokortison adalah 17,2 (SB 6,4) mg/m2/hari dan median durasi terapi 5,7 (rentang: 0,1-18,3) tahun. Sebagian besar subjek memiliki kontrol metabolik undertreatment (36/49), sesuai dengan median kadar 17-OHP 19 (rentang: 0,2-876) nmol/L. Terdapat 19 subjek sudah pubertas, 6 diantaranya mengalami pubertas prekoks. Prevalens gizi lebih dan obesitas sebanyak 5,3% ditemukan pada kelompok usia balita dan 66,7% pada kelompok usia lebih dari 5 tahun. Sebanyak 62,5% subjek memiliki asupan gizi lebih. Subjek dengan usia lebih dari 5 tahun, sudah pubertas, atau mengalami pubertas prekoks lebih berisiko mengalami gizi lebih dan obesitas. Durasi terapi glukokortikoid berkorelasi sedang (r=0,668; P=0,000) dengan indeks massa tubuh (IMT), sedangkan dosis terapi tidak menunjukkan korelasi dengan IMT.Simpulan. Prevalens gizi lebih dan obesitas pada anak HAK dalam penelitian ini adalah 42,9%. Subjek dengan usia lebih dari 5 tahun, sudah pubertas, atau mengalami pubertas prekoks lebih berisiko mengalami gizi lebih dan obesitas. Terdapat korelasi antara durasi terapi glukokortikoid dengan IMT.

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Background. Children with congenital adrenal hyperplasia (CAH) have a higher risk of being overweight and obese. The prevalence of obesity and its related factors in children with CAH in Indonesia is unknown.Objective. To study the prevalence of overweight and obesity in children with CAH and its related factors.Methods. A cross-sectional study in children with CAH at Cipto Mangunkusumo Hospital and other private hospitals around Jakarta during March to June 2013. History, physical examination, dietary analysis, and 17-OHP blood level were evaluated.Results. Forty-nine children with CAH were recruited in this study, consisted of 38 girls and 11 boys, with median age 6.1 (0.4-18.3) years old, and 79.6% were salt wasting (SW) type. Children with SW type had 2.5 years earlier treatment onset compared to non-SW type. The mean of hydrocortisone dose was 17.2 (SD 6.4) mg/m2/day, with median treatment duration was 5.7 (ranged: 0.1-18.3) years. Most subjects had undertreatment metabolic control (36/49) with median level of 17-OHP 19 (range: 0.2-876) nmol/L. Nineteen subjects were within pubertal stage with 6 of them had precocious puberty. Most subjects (62.5%) were overfeeding. The prevalence of overweight and obesity were higher among children more than 5 years old (66.7%) than children less than 5 years old (5.3%). Subjects with age more than 5 years old, within puberty stage, or with precocious puberty had a higher risk of obesity. Body mass index (BMI) had a moderate correlation (r=0,668; P=0,000) with treatment duration, but not with glucocorticoid dose.Conclusions. Prevalence of overweight and obesity in CAH children in this study was 42.9%. Aged more than 5 years old, being in the puberty stage, or having precocious puberty had a higher risk of obesity. There was a moderate correlation between BMI and treatment duration."

"Latar belakang: Hipertensi bukan merupakan manifestasi klinis pasien hiperplasia adrenal kongenital defisiensi enzim 21-hidroksilase (HAK 21-OHD), oleh karena itu perlu diketahui angka kejadian hipertensi pada pasien HAK 21-OHD serta kemungkinan penyebabnya. Tujuan: Mengetahui hubungan antara kadar aktivitas renin plasma (PRA) dengan hipertensi pada anak HAK 21-OHD. Metode: Suatu studi analitik observasional dengan rancangan penelitian potong lintang. Sampel penelitian adalah anak HAK 21-OHD yang berusia >6 bulan-18 tahun, dipilih secara consecutive sampling, kemudian dibandingkan antara 2 kelompok, hipertensi dan tidak hipertensi. Hasil: Sebanyak 40 anak dianalisis, 20 subjek di kelompok hipertensi dan 20 subjek tidak hipertensi. Hipertensi ditemukan pada 16 dari 27 subjek (59,3%) HAK tipe salt wasting dan 4 dari 13 subjek (30,8%) HAK tipe simple virilizing. Diperoleh perbedaan rerata yang bermakna kadar PRA antara kelompok hipertensi dengan tidak hipertensi pada tipe salt wasting p=0,016). Risiko mengalami hipertensi pada pasien HAK tipe salt wasting dengan kadar PRA rendah adalah 1,09 kali setelah dikontrol variabel jenis kelamin, kadar 17-OHP, dan dosis terakhir fludrokortison. Dosis terakhir hidrokortison memiliki hubungan yang signifikan terhadap kejadian hipertensi pada pasien HAK tipe salt wasting. Kesimpulan: Kejadian hipertensi pada pasien HAK 21-OHD saat penelitian berlangsung adalah 32%. Risiko hipertensi pada pasien HAK tipe salt wasting dengan kadar PRA rendah adalah 1,09 kali setelah dikontrol variabel jenis kelamin, kadar 17-OHP awal, dan dosis terakhir fludrokortison.

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Background: Hypertension is an uncommon manifestation of congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency (21-OHD CAH), therefore it is necessary to estimate the incidence of hypertension in 21-OHD CAH patients and the possible causes. Objective: To evaluate the association between plasma renin activity levels (PRA) with hypertension in children with 21-OHD CAH. Methods: An observational analytic study with a cross sectional study design. The subjects were 21-OHD CAH children, aged >6 months to 18 years, selected by consecutive sampling and then compared between 21-OHD CAH with hypertension and non hypertension groups. Results: A total of 40 subjects were analyzed, 20 subjects in the hypertension and 20 subjects in non hypertension groups. There were 16 from 27 (59.3%) and 4 from 13 subjects (30.8%) with hypertension in CAH salt wasting and simple virilizing types, respectively. There was significant mean difference in PRA levels between hypertension and non hypertension groups in CAH salt wasting patients (p=0,016). The risk of hypertension in CAH salt wasting patients with low PRA levels was 1,09 times after controlling for sex variables, 17-OHP levels, and the last dose of fludrocortisone. The last dose of hydrocortisone had a significant relationship with the incidence of hypertension in CAH salt wasting type patients. Conclusion: The incidence of hypertension in 21-OHD CAH patients during the study period was 32%. The risk of hypertension in CAH salt wasting patients with low PRA levels was 1.09 times after being controlled by sex, 17 OHP level, and the last dose of fludrocortisone."