Anthropometric, biochemical and hormonal profiles of the partially admixed pygmoid group in Rampasasa (Flores, Indonesia)

Objectives: We performed a cross-sectional study on anthropometric and laboratory characteristics of inhabitants of Rampasasa (Flores, Indonesia). Adults were categorised according to ancestry into three groups: pygmoid (P/P, offspring of pygmoid parents, n=8), mixed pygmoid (P/N, offspring of pygmoid and non-pygmoid parents, n=12) and non-pygmoid (N/N, n=10). Children (n=28) were P/N.Methods: Measurements included height, weight, sitting height, arm span, head circumference, haematological analysis and serum albumin, calcium, vitamin D, insulin-like growth factor-I (IGF-I) and IGF binding protein 3 (IGFBP-3). Pubertal stage and bone age was assessed in children. Anthropometric data were expressed as standard deviation score (SDS) for age. IGF-I, IGFBP-3 and IGF-I/IGFBP-3 ratio were expressed as SDS for age, bone age and pubertal stage.Results: Mean height SDS showed a gradient from P/P (-4.0) via P/N (-3.2) to N/N (-2.3) (-3.4, -3.1 and -2.2 adjusted for age-associated shrinking). Sitting height and head circumference showed similar gradients. Serum IGF-I SDS was similar among groups (approximately -1 SDS). IGFBP-3 SDS tended toward a gradient from P/P (-1.9) via P/N (-1.5) to N/N (-1.1), but IGF-I/IGFBP-3 ratio was normal in all groups. In P/P and P/N, mean head circumference SDS was >2 SD greater than mean height SDS. Children showed a progressive growth failure and bone age delay, delayed female pubertal onset and an initial low serum IGF-I, normal IGFBP-3 and low IGF-I/IGFBP-3 ratio.Conclusions: P/P showed proportionate short stature with relative macrocephaly and relatively low IGFBP-3; P/N presented an intermediate pattern. P/N children were progressively short, showed delayed skeletal maturation, delayed puberty in girls and low IGF-I and IGF- I/IGFBP-3.Developmen

Preliminary Study of Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia in Indonesia

Newborn screening (NBS) is an effective public health policy to detect congenital disorders. In 2014, Indonesia marked its pivotal step by launching a national NBS program for congenital hypothyroidism (CH). The expansion of NBS program is expected. This study aimed to evaluate the feasibility and recall rates of NBS for CH and congenital adrenal hyperplasia (CAH). A preliminary study was conducted in 5 cities in Indonesia from October 2015 to January 2016. All newborns aged 2-5 days with gestational age ≥36 weeks were included in the study. Identity, gender, and age at the time of testing, and gestational age were recorded. The heel prick dried blood samples were taken and transported to the appointed standardized laboratories for TSH and 17-OHP testing. Samples were tested using immunoassay. A positive screen test prompted recalling for confirmatory testing and referral to pediatric endocrinologists. Out of 1226 patients, 1126 were screened for TSH while 1188 were tested for 17-OHP. The median age was 2 (2-5) days. The recall rate for CH was 1/1167 (0.09%). The patient was recalled and was found to be a true positive case. Out of 1188 patients who were screened for CAH, 8 had positive results (0.71%). After recalling, only 3 patients screened for CAH came for confirmatory testing, and 2 were found true positives. High rates of CH and CAH in Indonesia indicate the need of mandatory NBS program. CAH screening results in high false positive values; hence, second tier screening should be considered. Government support, good partnership with health services, and increased society awareness are of importance.   Studi Preliminer Skrining Hipotiroid Kongenital dan Hiperplasia Adrenal Kongenital pada Bayi Baru Lahir di Indonesia Skrining bayi baru lahir (newborn screening/NBS) adalah kebijakan kesehatan masyarakat yang efektif dalam mendeteksi penyakit kongenital. Pada tahun 2014, Indonesia meluncurkan program NBS nasional untuk mendeteksi hipotiroid kongenital (HK). Penelitian ini bertujuan untuk mengevaluasi kelayakan dan recall rate program NBS untuk HK dan hiperplasia adrenal kongenital (HAK). Penelitian ini dilakukan di 5 kota di Indonesia pada bulan Oktober 2015 hingga Januari 2016. Subjek penelitian adalah neonatus berusia 2-5 hari dengan usia kehamilan ≥36 minggu. Data identitas, jenis kelamin, usia saat skrining, dan usia kehamilan dikumpulkan. Sampel darah kering yang diambil dengan heel prick diuji TSH dan 17-OHP. menggunakan immunoassay. Jika hasil positif, maka subjek dipanggil kembali untuk uji konfirmasi dan rujukan ke spesialis endokrinologi anak. Dari 1226 subjek, 1126 diuji untuk TSH dan 1188 diuji 17-OHP. Median usia 2 (2-5) hari. Recall rate untuk HK 1/1167 (0,09%). Subjek dipanggil kembali dan memiliki hasil uji konfirmasi positif. Dari 1188 subjek yang diskrining untuk HAK, 8 memiliki positif (0,71%). Hanya 3 subjek yang datang untuk uji konfirmasi dan 2 subjek positif. Tingginya angka HK dan HAK di Indonesia mengindikasikan kebutuhan akan program NBS nasional. Skrining HAK memiliki nilai positif palsu yang tinggi, sehingga skrining lapis kedua perlu dipertimbangkan. Dukungan pemerintah, kerja sama yang baik dengan layanan kesehatan, dan peningkatan kesadaran masyarakat penting untuk mendukung suksesnya program ini. &nbsp