Page 187 - Abstract Book KONIKA 18

Endocrinology

P-ENDO-021
A Genital Organ Ambiguity in 1 Year 8 Months Child
caused by Congenital Adrenal Hyperplasia: A Case Report

Kadek Adi Suryamulyawan, I Wayan Bikin Suryawan
Department of Child Health, Wangaya Regional General Hospital, Denpasar, Bali, Indonesia

Abstract
Background Disorder of sexual development (DSD) is a congenital disorder of genital organ ambiguity, one
of the most common causes is Congenital Adrenal Hyperplasia (CAH). CAH is an autosomal recessive genetic
disorder which causes disturbances in one of the enzymes in the formation of cortisol and aldosterone in the
cortex of the adrenal glands. The prevalence of CAH in the world is estimated to be 1:15,000 live births.
Objective To report a DSD caused by CAH case. Case A 1 year 8 months girl came with unclear genitalia as
chief complaint. She was full term born with 3000 grams of weight, with enlarged phallus (clitoris) that also
occurred in her two cousins. From physical examination we found 2 cm of measurement phallus, and external
urethral ostium was at the base of the phallus, with no testes palpable. Laboratory workup revealed the patient
had 46,XX chromosome with elevated 17-OHP (179.12 ng/mL) and the estradiol level was appropriate with
the Tanner stage of the patient. On the other hand, the testosterone level was greatly elevated (36.07 ng/dL).
Morning cortisol level was normal but within low limits, therefore we administer hydrocortisone 20 mg/body
surface area/day. Conclusion A child with 46,XX chromosomes with clitoromegaly, had familial history of
similar complaints, elevated 17-OHP & testosterone levels, and low normal cortisol level was diagnosed
with DSD caused by CAH. We gave hydrocortisone as treatment to control cortisol and aldosterone levels
and suppress excessive adrenal androgen secretion so that abnormal virilization can be prevented.
Keywords DSD, Genital Ambiguity, CAH, Hydrocortisone

P-ENDO-022
Human Leucocyte Antigen-DQA1 Peptide
in Children with Type 1 Diabetes Mellitus

M. Rizki Darmawan M., Muhammad Faizi, Nur Rochmah, Anang Endaryanto
Department of Child Health, Faculty of Medicine Universitas Airlangga/Dr. Soetomo General Academic Hospital,
Surabaya, East Java, Indonesia

Abstract
Background The major genetic determinants of Type 1 Diabetes Mellitus (T1DM) are polymorphisms of
class II Human Leucocyte Antigen (HLA) genes with HLA-DQ have the strongest association with T1DM.
Genetic variation in these genes may interfere the peptide pool to initiate an immune reaction that play a
role in pathogenesis of T1DM. However, studies about HLA-DQA1 peptide value in T1DM are still limited.
Objective To analyze HLA-DQA1 peptide value in T1DM children Methods A case-control study of T1DM
children was held in Dr.Soetomo Hospital using consecutive sampling technique. HLA-DQA1 peptide was
examined with HLA Class 2 Histocompatibility Antigen, DQ-Alpha 1 Chain ELISA Kit. Independent-samples
t-test and Pearson’s correlation test were conducted with significant value P<0.05. Results Thirty-eight
participants consist of 19 children for each group were enrolled in this study. The mean age and C-Peptide
value of T1DM children that compare to control group were 13.6 (SD 3.7) and 10.3 (SD 2.7) years; 0.9 (SD
0.5) and 1.4 (SD 1.1) ng/mL respectively. Mean duration of T1DM was 4.8 (SD 2.5) years. HLA-DQA1
peptide mean value of T1DM children and control group were 2.6 (SD 1.2) and 1.7 (SD 0.4), respectively.
HLA-DQA1 peptide value was significantly difference between T1DM children and control group (P=0.02).
There was no correlation between HLA-DQA1 peptide and C-peptide value (P=0.59, r=-0.09); HLA-DQA1
peptide value and duration of T1DM (P= 0.08, r=-0.42). Conclusion HLA-DQA1 peptide value was high
in T1DM children. These results provide further evidence that polymorphisms of HLA genes influence the
peptide value in determining susceptibility to T1DM.
Keywords: human leucocyte antigen; HLA-DQA1 peptide; type 1 diabetes mellitus

KONIKA XVIII Abstract Book 139