Page 181 - Abstract Book KONIKA 18

Endocrinology

P-ENDO-009
Osteogenesis Imperfecta Type IV in Two Siblings

Savitri Kuntari, Nur Rochmah , Muhammad Faizi , Irwanto 2
2
2
Pediatric Resident and Departemen of Child Health , Faculty of Medicine, Universitas Airlangga/
1
2
Dr. Soetomo General Academic Hospital, Surabaya, East Java, Indonesia
Abstract
Background Osteogenesis imperfecta (OI), is a rare bone disease caused by inherited connective tissue
disorder, commonly caused by mutation in genes encoding alpha 1 and 2 chains of type I collagen. Symptoms
can vary greatly in the clinical features and severity, even within families who share common mutation.
More than 90% of OI inheritance are autosomal dominant, there is 50% chance of having affected child
in each pregnancy and 25% chance for the sibling to have the same disorder. Objective To report a case of
inheritance pattern within family and also clinical manifestation for further thorough management regarding
OI type IV. Case H, boy, 12 years and F, boy, 10 year, are sibling. Both had chief complaint of multiple
fracture on lower extremities within minor trauma since 5 months old and 5 years old. There was same
features of OI clinical manifestation within the mother family only. Their physical examination revealed there
was no blue sclera, no dentinogenesis imperfecta, no joint hypermobility, and also no hearing difficulties.
Though they has moderate bone deformity and delayed growth. Radiology evaluation revealed pathologic
fracture, cortical thinning, osteopenia, and pseudoarthrosis. These findings are in line with OI type IV.
Patients has treated with fixation, Zolendronate injection, and supportive therapy, also planned for surgery.
Conclusion We reported two cases of siblings with osteogenesis imperfecta type IV. There is 25% chance
for the sibling of the OI patient to have the same disorder. The patient's management was carried out by
definitive and supportive therapy.
Keywords: osteogenesis imperfecta; type IV; sibling

P-ENDO-010
Evaluation of Congenital Hypothyroidism Screening Program
in South Kalimantan 2017-2020

Valentina Halim, Adelgrit Trisia, Gratianus Billy Himawan, Indra Widjaja Himawan
Department of Child Health, Faculty of Medicine, Universitas Lambung Mangkurat, Ulin General Hospital,
Banjarmasin, South Borneo, Indonesia
Abstract
Background Congenital hypothyroidism screening in South Kalimantan was developed in 2017.
Objective To evaluate a newborn screening program for congenital hypothyroidism in South Kalimantan
during 2017-2020. Methods The data were collected via online semi-structured questionnaire on 24 health
workers from 13 districts in South Kalimantan who had been trained at the Banjarmasin City Health
Office about the screening implementation. The data were then reported in the form of frequency analysis.
Results In 2017-2020, the coverage of congenital hypothyroidism screening in South Kalimantan was 1,015
out of 82,169 targeted newborns (1.23%) from 9 districts, 984 out of 81,296 (1.21%) from 11 districts, 2,006
out of 81,315 (2.46%) from 11 districts, and 1,170 out of 79,621 (1.46%) from 10 districts, respectively.
The results showed 16,6% respondents did not promote this program to stakeholders and 83,4% promoted
this program to the stakeholders but not routine. The screening was routinely promoted through pregnancy
classes and counseling (95,83%). Additionally, 75% respondents told this program could not run optimally
due to the lack of adequate budget. Lastly, 45% respondents told there were several mothers who were
unwilling to do the screening since the invasive action might harm their infants. Conclusion The coverage
of congenital hypothyroidism screening in South Kalimantan was still low. It is important to implement a
structured system to monitor the congenital hypothyroidism screening. Additionally, it is recommended to
include the hypothyroidism screening package at the Health Social Security Agency (BPJS).
Keywords congenital hypothyroidism, screening, South Kalimantan

KONIKA XVIII Abstract Book 133