Frida Soesanti

Vitamin D profile in healthy children aged 7-12 years old in Indonesia

Background The recent data on the vitamin Dshowed a surprising result, which exhibited in high prevalence of vitamin D deficiency and insufficiency in children and adolescence. Thisnot only occurs in country that lies in high latitude but also in sun rich country. Many factors contributing to this condition, including changing in life style. No data available regarding vitamin D status in healthy children in Indonesiaand this will be the first study addressing this issue.

Evaluation of parental knowledge after establishing CAH clubs in Vietnam & Indonesia

The incidence of Congenital Adrenal Hyperplasia (CAH) in some Asian countries is far higher than in Australia, (eg 1:6000 as per the Filipino Newborn Screening Program). For many families in low and middle-income countries in Asia resources are limited, affordable and reliable access to essential medicines is problematic, and families living remotely are required to travel long distances for medical care [1]. CAH is associated with significant physical & psychosocial consequences for affected children & their families where treatment is suboptimal, so there are important equity implications for the global CAH and paediatric endocrinology communities to consider. Health education is an integral component of health care in any setting. “CAHPepTalk” is an educational resource that was developed initially for CAH families in Australia. This validated educational resource has been produced in DVD format and can be facilitated by one health professional. The program includes a translated validated CAH Knowledge Assessment Questionnaire (CAHKAQ) [2], to enable staff to assess patient knowledge in order to evaluate educational needs. In collaboration with CLAN (Caring & Living As Neighbours), an Australian NGO committed to optimal quality of life for all children living with chronic health conditions), translation of “CAHPepTalk” into Vietnamese & Indonesian was undertaken, & distributed to CAH Communities in the Asia-Pacific region, was supported by CLAN. Knowledge of parents of children with CAH in Vietnam and Indonesia was assessed prior to families attending education programs run at CAH Club meetings supported by CLAN, in 3 settings: Hanoi, Ho Chi Minh City & Jakarta. 260 questionnaires have been completed by parents. The results to be presented will include knowledge, management & demographics. Using the CAHKAQ is the first step in the education process in order to improve health outcomes for families in any setting, within Australia, Vietnam or Indonesia.

Effect of bisphosphonate treatment in osteogenesis imperfecta children in Cipto Mangunkusumo Hospital Jakarta

Results Seventy-seven OI cases (39 male), which were diagnosed at the age of 1 9 years old were recorded. Five patients underwent surgery and three patients died before commencing treatment. Nine patients received intravenous pamidronate and sixteen patients received zolendronic acid therapy. Liver and renal functions, as well as serum electrolyte levels were evaluated before and after treatment. Eight patients reported hyperthermia and three others experienced fatigue, bone pain, and abdominal pain within 24 hours of therapy. Serum calcium level decreased in eight patients. No serious adverse effects were documented.

Bisphosphonates as treatment of secondary osteoporosis in children: a case series

Case Series We included 6 patients (2 boys, 4 girls), 7–15 years of age with secondary osteoporosis who were treated with biphosphonate. Two patients were diagnosed acute lymphoblastic leukemia, two patients with systemic lupus erythematosus and others with juvenile rheumatoid arthritis. Two patients received methotrexate and dexamethasone; one patient was treated with methotrexate and prednisone; two patients with methylprednisolone; and rest with only methotrexate. Four of them suffered back pain due to trauma and from radiographic examination showed multiple compression fracture on the vertebrae. Lumbal BMD Z-score was ranging from -2.8 to -5.1 in patients who had fracture, while in patients without fracture -2.6 to -3.1. We used zoledronic acid 0.05 mg/kgBW. Two patients already received pamidronate as previous treatment. In 6 12 months of followup, there were evidence of reduced pain, improved mobility and BMD Z-score, also no evidence of new fractures in radiographic evaluation. Conclusion Bisphosphonates appears to be safe and effective as treatment for children with secondary osteoporosis.

Clinical phenotype and karyotype finding of Turner syndrome in Jakarta.

Turner syndrome (TS) is the most common sex chromosome abnormality of female, occurs in one in 2500 live-born females. TS combines’ characteristic physical features with complete or partial absence of the X chromosomes, frequently accompanied by cell mosaicsm. The aims of this study is to describe the clinical phenotype and karyotype of patient with Turner Syndrome in Jakarta, Indonesia. Data was collected from medical records of the Pediatrics Endocrinology Clinic, Cipto Mangunkusumo Hospital in Jakarta since 2000-2012. Of the 23 cases collected, the mean age at diagnosis was 7.75 years (range 0-15 years). The most common problem that bring patients came to the clinic were short stature (69.6%) and delayed puberty (30.4%). There were 8 patients with concomitant disorders: 4 cardiac abnormalities, 3 with ear disorders, 1 with hypertension. From16 patients who had bone age evaluation, 11 patients showed retarded age. A total of 17 patients had a karyotype 45, X and the rest are mosaics. Our study suggest that the main characteristics of Turner syndrome is a karyotype 45,X with the physical characteristics of short stature and delayed puberty.

Endocrinopathies in Thalassemia major patients in Thalassemia Center Jakarta, Indonesia

This was a retrospective study based on the registry database in Thalassemia Center, Jakarta. We included patients who diagnosed as thalassemia major with complete data on glucose metabolism, thyroid function, pituitary-gonadal axis, bone profile, bone age, and serum ferritin level. We analyzed the association between ferritin level, chelation therapy and type of thalassemia with endocrine profile using chi-square with the significant value of 0.05. Results Complete data on endocrine profile were found in 67 subjects (31 boys, 36 girls), 23 (34%) were diagnosed as b-thalassemia homozygote and the rest as b-thalassemia/ HbE. The mean age was 16.7±5.8 years. Most of the patients (63%) received iron chelation therapy with desferrioxamine followed by deferiprone (20%) and only two patients have not taken any iron chelation therapy yet. Short stature was found in 65% of subjects, while 20% of subjects suffered from delayed puberty, 41% had hypothyroidism, and 29% had retarded bone age. None of them was diagnosed as DM or IGT, but one diagnosed as IFG. Hypocalcemia was found in 27% subjects. Subjects with serum ferritin level ≥ 2,500 ng/mL had increased risk to develop hypothyroidism, hypocalcemia and hyperphosphatemia, even though not statistically significant (p=0.58, p=0.08, respectively). Serum ferritin level also not associated with short stature and delayed puberty. Subjects with thalassemia beta-major had increased risk to develop hypothyroidism (p=0.036), but no differences found in the prevalence of short stature, delayed puberty, hypocalcemia, and hypophosphatemia (p0.17, p=0.91, p=0.60, respectively). The frequency of transfusion per year and type of chelation therapy did not influence the endocrine profiles. Conclusions This study showed that the prevalence of short stature among thalassemia patients is higher in Thalassemia Center Jakarta, while the risk to develop impaired glucose metabolism is lower, despite of poor compliance in iron chelation therapy. The risk to develop hypothyroidism, delayed puberty, and hypoparathyroidism were comparable to other studies.

Profile of Congenital Hypothyroidism in DR. Cipto Mangunkusumo Hospital

Results There were 40 children with CH included in the study. Boys 12(30 %) and girls 28(70%). Age when diagnosed 0-3 months 4(10%), 3-6 months 2(5%), 6-12 months 9 (22,5%), 1-6 years 20(50%), 6-14 years 5(12,5%). Clinical manifestation: delayed development 27,5%, underweight 17,5%, acute respiratory infection 15%, constipation 12,5%, hypotonia 7,5%, speech delay 5%, short stature 5%, enlarged tongue 2,5%, vomite 2,5%, icteric 2,5%, enlarged lymph node of colli 2,5%. We found suspect down syndrome 4(10%), severe malnutrition 4(10%), short stature 3(7,5%), mental retardation 2(5%).

Relapse in pituitary adenoma after resection

Pituitary adenoma in children is rarely reported. Acromegaly is one of clinical manifestation in GH releasing-pituitary adenoma. Recurrence of clinical manifestation after resection must be evaluated for possibility of pituitary adenoma relapse. N,male,15-yo, came to pediatric endocrinology outpatient clinic with the main complain of acromegaly and decreased of visual field which was getting worse since two weeks before(April11, 2011). He was consulted to ophthalmology and neurosurgery outpatient clinic. MRI with contrast revealed pituitary adenoma. Laboratories results showed TSHS:0.9773(0.35-4.94)uIU/ml, prolactin:0.51(4.04-15.2)ng/ml, testosterone less than 2.50(boys:13-17:28-1110)ng/ml, growth hormone was more than 40,00(>10.0)ng/ml. He was performed transsphenoidal removal cystic tumor. Pathological result showed macroscopic: yellowish cystous mass;0.6x0.4x0.2cm whether microscopic: appropiate to pituitary adenoma, non chromophobe. After surgery, patient was given DDAVP nasal spray 10 microgram/day, L-thyroxin 100 microgram once daily. One year after surgery, patient complaint of acromegaly, decreased visual field, especially in right and left temporal side, cephalgia. On physical examination, body weight was 91.5kg, height was184.5 cm. There was hemianopsia bitemporal. Tanner stage was A2P4G4. MRI with contrast showed pituritary adenoma relapse. Bone age was normal with height percentage based on it is about 96.8%. Tanner Whitehouse showed adult height 186.4cm. Thorax X ray showed heart and lungs were normal. Laboratories results revealed IGF1:1359(237-996)microgram/L, FT4:1(0.89-1.76)ng/dl; TSHS:0.3(0.5-4.94)microIU/ml(12-18yo), testosterone:435.1(28-1110) ng/dl. Working diagnosis was pituitary adenoma relapse post tumor resection, panhypopituitarism, diabetes insipidus. Testosterone 150mg once per month was added. Relapse of pituitary adenoma in children must be considered in the recurrence of clinical manifestations.

Pathological gynecomastia in children at Cipto Mangunkusumo hospital Jakarta

Gynecomastia is generally attributed to conditions that disrupt sex-steroid signaling pathways, resulting in increased or unopposed estrogen action on breast tissue. Pubertal gynecomastia is common and usually physiological, with sympathetic reassurance and watchful waiting the mainstays of treatment. Meanwhile, pathological gynecomastia should be identified, sought the cause and gave proper management shortly. The aim of our study was to raise vigilance into pathological gynecomastia that require more complex management and have long-term effect. We conducted a retrospective chart review of 12 patients with gynecomastia who presented to pediatric endocrinology clinic at Cipto Mangunkusumo Hospital, Jakarta from September 2009 to June 2012. Seven patients (58 %) aged 10.3-to 13.5 yr old were diagnosed physiologic pubertal gynecomastia, one patient (8 %) aged 1 month old was diagnosed neonatal gynecomastia and the rest 4 patients (34 %) were pathologic. Of the pathologic case, two patients aged 7.4 and 8.4 yr old were diagnosed prepubertal gynecomastia with history of taking herbal medicine and fast foods at least three times a week and still being observed. The others, aged 10.6 and 14.9 yr old were investigated and confirmed to have DSD (disordered of sexual development) 47 XXY, Klinefelter syndrome and DSD 46 XX ovotesticular. Our results suggested that gynecomastia in children should prompt an immediate evaluation distinguish a normal developmental variant from possible endocrine disorder in order to give the best treatment.

Psychosocial problems in children with congenital adrenal hyperplasia in Cipto Mangunkusumo Hospital, Jakarta, Indonesia

Congenital Adrenal Hyperplasia (CAH) is a chronic illness that requires lifelong medication and, in some cases, frequent hospitalizations. This situation will bring psychosocial consequences for the patients and their families. This study aims are to determine the psychosocial problems in children with CAH in Cipto Mangunkusumo Hospital. Data was taken from medical records in Pediatrics Endocrinology Clinic of Cipto Mangunkusumo Hospital, Jakarta, Indonesia during 2007-2012. Out of 96 patients were diagnosed as CAH, 76 patients aged 4-16 years included in this study. Patient’s parents were interviewed by telephone for screening of psychosocial problems using the Pediatrics Symptom Checklist-17 (PSC-17). Patients and their parents were also asked about their expectations in the future. Out of 76 patients, Twenty five patients had 46,XX karyotype, 2 patients had 46,XY karyotype, while 49 patients have no karyotipe data available. Most children were raised in accordance with the results of their karyotype finding. Few parents reported some behaviour problems with their children according to PSC-17. Our study suggests that few children with CAH had a psychosocial dysfunction that might be related to their physical condition. Improving knowledge and encouraging parent to join with CAH support group were important to help families with CAH in Indonesia.