Hypothyroidism and stunting around the Merapi Volcano

Cangkringan is a mountainous area with the possibility of low iodine sources in the soil. Additionally, Cangkringan area is the area nearest to where eruptions of Merapi mountain have occurred, which further could reduce iodine levels in the soil. This study examined the incidence of hypothyroidism due to iodine deficiency and potential links to stunting events on the slopes of Merapi mountain. By using ELISA methods, a total of 97 mothers were tested to detect the triiodothyronine (T3) and thyroid-stimulating hormone (TSH) levels to determine the frequency of hypothyroidism, while 97 children were assessed to check the stunting rates by measuring height compared to age. We found hypothyroidism was 3 (3.1%) out of 97 mothers examined and 30 (30.9%) out of 97 children examined were stunted (18.5% short stature and 12.4% very short stature). There was a significant difference between the mothers’ TSH levels among very short stature and normal stature. We concluded that hypothyroidism in mothers is correlated with stunting children in Cangkringan, Sleman sub-district. Further research is needed to determine the frequency of hypothyroidism and stunting in other slopes of Merapi mountain, where the low-iodine soil composition is potentially related to hypothyroidism and stunting incidence. Thus, further treatment is needed by local health staff and governments to address the negative effects of hypothyroidism and stunting.

Hubungan antara Kadar Hemoglobin dan Status Gizi pada Penderita Thalassemia-β Mayor di RSUD Al-Ihsan Provinsi Jawa Barat

Thalassemia adalah penyakit kronik yang menyebabkan penurunan Hb karena gangguan sintesis hemoglobin akibat mutasi satu atau lebih gen globin. Thalassemia dapat menyebabkan gangguan status gizi. Status gizi penderita thalassemia dipengaruhi oleh keadaan anemia kronik, kelebihan zat besi akibat rendahnya kepatuhan minum obat kelasi besi yang rendah, usia saat terdiagnosis, kadar Hb saat akan dilakukan transfusi, nutrisi dan penyakit penyerta. Tujuan penelitian ini mengetahui hubungan antara kadar hemoglobin dan status gizi pada penderita thalassemia-β mayor di RSUD Al Ihsan Provinsi Jawa Barat. Penelitian ini menggunakan metode analitik dengan melihat data rekam medis pasien Thalassemia-β mayor di Klinik Anak RSUD Al-Ihsan periode Maret - Juni 2020 dengan rancangan studi cross sectional. Kriteria inklusi: usia 0 - 18 tahun, terdapat data BB, TB dan Hb. Dari 92 anak yang menderita Thalassemia-β mayor terdapat 82 anak yang memenuhi kriteria inklusi, kebanyakan berusia 1 - 5 tahun (40%) dengan jenis kelamin laki-laki 43 anak dan perempuan 39 anak. Pada anak usia ≤ 5 tahun: 85% status gizinya normal, gizi kurang 6%, perawakan normal 67%, perawakan pendek 18%, dan perawakan sangat pendek 15%. Anak usia > 5 tahun: 71% status gizinya normal, gizi kurus 10%, sangat kurus hanya 2%, perawakan normal 35%, perawakan pendek 43%, dan perawakan sangat pendek 22%. Nilai-p BB/TB pada anak ≤ 5 tahun yaitu 0.494 dan TB/U 0.33. Pada anak usia > 5 tahun dihasilkan nilai-p IMT/U 0,595 dan TB/U 0,230. Simpulan penelitian adalah kadar hemoglobin tidak memiliki hubungan dengan status gizi pasien Thalassemia-β mayor. The Relationship between Hemoglobin Levels and Nutritional Status in Thalassemia B Major Patients in Al Ihsan Hospital West Java ProvinceThalassemia is chronic disease that causes decrease in Hb due to hemoglobin synthesis disorders. Thalassemia can cause nutritional status disorders. Factors that influence nutritional status are age at diagnosis, Hb level at the time of transfusion, chronic anemia, iron overload due to low adherence to taking iron chelating agent drugs, nutrition and comorbidities. The purpose of this study is to see the relationship between hemoglobin levels and nutritional status in thalassemia B major patients in Al Ihsan Hospital West Java province. Using the analytic method by looking at the medical record data of patients who went to the children’s clinic at Al Ihsan Hospital during the March - June 2020 period with a cross-sectional study. The inclusion criteria were children aged 0 - 18 years and there were data on body weight, height and Hb level. Of the 92 thalassemia patients, 82 met the inclusion criteria. Mostly aged 1-5 years (40%) with male 43 children and female 39 children. Children aged < 5 years: 85% normal nutritional status, 6% wasted, 67% normal stature, 18% stunted and 15% severely stunted, with p-value W/BH was 0.493 and p-value BH/A was 0.331. Children > 5 years aged: 71% normal nutritional status, 10% wasted, 2% severely wasted, 35% normal stature, 43% stunted and 22% severely stunted, with p-value BMI/A was 0.595 and p-value BH/A was 0.230. The conclusion of this study is there is no relationship between hemoglobin levels and nutritional status in thalassemia B major patients.

One Fourth of Adult Patients With Acromegaly Have Tall Stature With Similar Frequency in Males And Females

Introduction: Tall stature (TS) is a manifestation of growth hormone (GH) excess, with higher prevalence reported for males. The aim of this study was (i) to evaluate the relationship between height of patients with GH excess related to midparental height (MPH) and population mean height; (ii) to test whether TS patients with acromegaly come from tall families. Methods: Single-centre, observational study on 101 consecutive adult patients with acromegaly and no family history of pituitary adenoma. Patients were analysed in two subgroups depending on height using country-specific data: 1) normal stature and 2) TS group, defined as either height above gender-specific 97 percentile or as &gt;1.5 country-specific standard deviation (SD) from MPH. Results: Twenty-four percent of acromegaly patients (13 females/11 males) met one or both of the TS criteria. TS patients were significantly younger at the diagnosis (mean±SD, 33.6±13.4 vs 50.6±12.3 years) and at first symptoms (median 27.5, range 23-42 vs 41 (33-54) years) with greater tumour size and higher basal GH concentration than normal stature patients (p&lt;0.01). The TS criteria based on the 1.5 SD above MPH identified more TS patients than the above 97 percentile height (92% vs 38%) and especially increased the diagnosis of TS in women (92% vs 31%). There was no difference in height of family members of acromegaly patients with or without TS. Height of family members were not taller than the population mean. Conclusion: One fourth of adult patients with acromegaly have TS with similar frequency in males and females. Based on our data TS patients with acromegaly do not come from tall families.

Comparison of Cognitive and Other Developmental Functions in Children With Stunting and Malnutrition

Background. Stunting is the impairment of growth and development due to malnutrition and/or chronic disease/infection. According to the Indonesia Basic National Health Survey 2013, prevalence of stunting in Indonesia reached 37.2%. Various studies have shown that impaired cognitive development may be found in children with stunting and malnutrition. This research has purpose to determine cognitive development in stunted children and malnourished children, using Bayley Scale of Infant Development III (Bayley-III). Methods. A cross-sectional study in 51 children aged 6 month to 3 year old who fullfiled the inclusion criteria at the Outpatient Clinic of Dr.Cipto Mangunkusumo National General Hospital from June 2017 until January 2018. Cognitive development was assessed using the Bayley Scale of Infant Development Third Edition (Bayley-III). Results. Twenty six children with stunting and 25 children with malnutrition without stunting with age of subjects were 11.0 month (2.0-34.0) and 16.0 month (7.0-25.6) respectively. Bayley-III percentile in cognitive scale were 12.5 (0.1-75) and 16.0 (0.1-99.9) with P (p-value)=0.55. Conclusions: Stunted children showed lower cognitive scores compared to the children with malnutrition. Although it was not significant, but it showed that Bayley-III scores group of stunting and malnutrition groups of children with normal stature far below the 50 percentile (P50). This showed that both children with stunting and malnutrition possible to have decreased cognitive function. Further research is needed with a larger sample to get comprehensive conclusions. Early detection and intervention also should be aimed at children who are experienced growth faltering to prevent developmental problems, especially cognitive function.

ACQUIRED ECTOPIC POSTERIOR PITUITARY BRIGHT SPOT DUE TO VASCULOTOXIC SNAKEBITE

Objective: Vasculotoxic envenomation is an uncommon cause of hypopituitarism. Most described cases have varying extent of anterior pituitary dysfunction, but posterior pituitary involvement is extremely rare. Methods: Clinical, biochemical, and radiologic evaluation of a young female who presented with secondary amenorrhea was performed. A brief literature review of envenomation-induced hypopituitarism is included. Results: A 26-year-old female presented with secondary amenorrhea since the age of 20 years. She had normal stature. Her past medical history was significant for a vasculotoxic snakebite 12 years back requiring hemodialysis, but no hormonal testing was done at that time. Current evaluation showed anterior hypopituitarism. An insulin-induced hypoglycemia test confirmed deficiencies of cortisol and growth hormone axes (peak values 348 nmol/L and 0.03 ng/mL). There was no diabetes insipidus. Magnetic resonance imaging revealed a hypoplastic anterior pituitary with an ectopic posterior pituitary. In view of normal stature and secondary amenorrhea, a diagnosis of envenomation-induced hypopituitarism with ectopic posterior pituitary (EPP) was made. A brief literature review of envenomation-induced hypopituitarism showed both acute and delayed presentation, male predominance, and variable lag period (weeks to years). Nearly half of all patients were asymptomatic. The most common axis involved in acute presentation was the cortisol axis, whereas the thyroid and gonadotroph axes were commonly involved in delayed hypopituitarism. Conclusion: Vasculotoxic envenomation is a rare cause of acquired hypopituitarism. EPP in the index case was probably due to the “axonal dieback” phenomenon and subsequent regeneration of the axons at a more caudal site. This case, being the first instance of acquired EPP following envenomation, expands the spectrum of envenomation-induced hypopituitarism.

Early childhood malnutrition trajectory and lung function at preadolescence

Objective: Chronic undernutrition is a common phenomenon in Bangladesh. However, information is grossly lacking to report the correlation between chronic undernutrition trajectory and lung function in children. The aim of the current study was to understand the association between early-childhood chronic undernutrition trajectory and lung function at preadolescence. Design: The current study is a part of the 9-year follow-up of a large-scale cohort study called the Maternal and Infant Nutrition Interventions in Matlab. Settings: The current study was conducted in Matlab, a sub-district area of Bangladesh that is located 53 km south of the capital, Dhaka. Participants: A total of 517 children participated in lung function measured with a spirometer at the age of 9 years. Weight and height were measured at five intervals from birth till the age of 9 years. Results: Over half of the cohort have experienced a stunting undernutrition phenomenon up to 9 years of age. Children who were persistently or intermittently stunted showed lower forced expiratory volume (ml/s) than normal-stature children (P < 0·05). Children who exhibited catch-up growth throughout 4·5 years from the stunted group showed similar lung function with normal counterparts, and a better lung function than in children with the same growth velocity or who had faltering growth. In the multivariable models, similar associations were observed in children who experienced catch-up growth than their counterparts after adjusting for covariates. Conclusion: Our data suggest that catch-up growth in height during early childhood is associated with a better lung function at preadolescence.

Mayer-Rokitansky-Küster-Hauser syndrome

Abstrak. Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) adalah suatu sindrom yang ditandai dengan aplasia uterus, serviks, dan 2/3 vagina bagian atas karena perkembangan yang tidak sempurna dari duktus Mullerian. Dilaporkan seorang perempuan berusia 26 tahun yang mengeluh belum pernah menstruasi sampai saat ini. Secara fenotip pasien tampak sebagai perempuan yang memiliki perawakan normal. Payudara dan distribusi pertumbuhan rambut aksila serta kemaluan berkembang normal, disertai pertumbuhan lemak pada bokong dan paha. Tuba fallopi, rahim, dan vagina 2/3 proksimal tidak terbentuk. Pada pemeriksaan klinis ginekologi tampak introitus vagina dengan sonde vagina sepanjang 2 cm. Pemeriksaan USG abdominal, uterus berupa garis dan kedua ovarium sulit dinilai. Pemeriksaan MRI didapatkan agenesis uterus dan agenesis adnexa. Pemeriksaan analisa hormonal, LH 9,81 mIU/mL, FSH 6,87 mIU/mL, progesteron 0,51 ng/mL, estradiol 46,4 pg/mL, testosteron 60,45 mg/dl, TSH 1,216 mIU/L, T4 11 ug/dl, serta analisa kromosom 46XX. Pasien direncanakan untuk dilakukan vaginoplasti.Kata kunci : sindrom MRKH, anomali duktus Mulleri, vaginoplastiAbstract. Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) is a syndrome characterized by uterine, cervix, and the two third of upper vagina aplasia which is the cause of incomplete development of the Müllerian duct. Reported a case of woman 26 years old, patient has not menstruated until now. The phenotype of the patient appears to be female, and with normal stature. Breast, axilla dan pubic hair distribution, fatty in buttocks and thigh developed normally. Fallopian tubes, uterine and 2/3 upper part of vagina were not formed. On gynecological clinical examination, found vaginal introitus with a vaginal sonde was 2 cm. On abdominal ultrasound examination, the uterus was seen as a line and both ovaries were difficult to assess. MRI examination obtained theresults as uterine and adnexa agenesis. Hormonal analysis showing LH 9.81 mIU/mL, FSH 6.87 mIU/mL, progesteron 0.51 ng/mL, estradiol 46.4 pg/mL, testosterone 60.45 mg/dl, TSH 1.216 mIU/L, T4 11 ug/dl, and chromosome examination is 46 XX. Patient are planned for vaginoplasty. Key words: MRKH syndrome, mullerian duct anomalies, vaginoplasty

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with Alström syndrome associated with two novel changes in ALMS1. Case presentation Two siblings originally diagnosed as having achromatopsia presented with mild light sensitivity, nonspecific otitis media, and mild developmental delay during the first decade of life with a relatively stable ocular appearance during second decade, late onset of nystagmus and dyschromatopsia (after 20 years) and preserved vision during the third decade of life. One sibling had late onset hearing loss and both siblings had symmetric high myopia, normal stature, and ptosis. Clinical findings revealed structural and functional tests consistent with a cone-rod dystrophy. Novel variants c.9894dupC (p.S3298 fs) and c.10769delC (p.T3590 fs) in ALMS1 gene were found. Conclusions Two North American siblings who presented with a mild clinical phenotype of Alström syndrome were found to have novel mutations in ALMS1. These two frame-shift mutations segregated with the disease phenotype lending evidence to their pathogenicity.