Page 204 - Abstract Book KONIKA 18

Endocrinology

P-ENDO-055
Late Presentation of A Child with 46 XY/45X Mosaicism:
Diagnosis and Management Dilemma

Lilis Siti Asiyani, Suryono Yudha Patria, Madarina Julia
Departement of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/
Dr. Sardjito General Hospital, Yogyakarta, Central Java, Indonesia

Abstract
Background Disorder of sex development (DSD) is a condition where there is a disagreement between
phenotypic and genotypic sex with multifactorial etiologies. A 46XY/45X mosaicism is a DSD leading to
unpredictable genital phenotype. Genital reconstructive surgery was sometimes needed for the patient to
grow normally. On the other hand, permanent removal of the unwanted genitalia is not recommended before
adulthood. Objective To review the diagnosis and the management dilemma of a child with 46XY/45X
mosaicism Case An 8 years old patient who was raised as a boy presented with ambiguous genitalia Prader IV,
hypospadias penoscrotal, bilateral unpalpable testis (UDT). Further investigations tests showed: karyotyping
46XY(10)/45X(15), positive HCG test and normal of AMH. Imaging studies showed that the patient had
normal uterus and vagina, no visible testicular structure or penis. Laparoscopy and genital biopsy showed
streak gonads with fetal testes morphology and a tube as well as primitive ovarian stromal, without primordial
follicles. In spite of the presents of female internal genitalia, parents decided to raise the child as a male. The
first attempt of urethroplasty failed because of infections. The female internal genitalia had to be completely
removed before urethroplasty could be re-performed. Parents wanted prompt urethroplasty to enable the
child to live as a normal boy. Conclusion Prompt gender assignment early in life is very important because
gender of rearing might supersede clinical findings in the decision of future gender.
Keywords: 46XY/45X; mosaicism; DSD; gender of rearing

P-ENDO-056
Thyroid Dysfunction in Children with Down Syndrome

M. Rizki Darmawan M., Muhammad Faizi, Nur Rochmah, Desy Nurrosalia
Department of Child Health, Faculty of Medicine Universitas Airlangga/Dr. Soetomo General Academic Hospital,
Surabaya, East Java, Indonesia
Abstract
Background Down syndrome (DS) is associated with increased risk for thyroid dysfunction, especially
hypothyroidism. Subclinical hypothyroidism is known to be of the most frequent type hypothyroidism in DS.
Thyroid autoimmunity has been known to be the cause the disease in those children. Objective To describe
the spectrum of thyroid dysfunction in children with DS. Methods A cross-sectional study was conducted
at Dr. Soetomo General Hospital on children with DS aged 1 to 17 years. Serum TSH, FT4 and Antithyroid
Peroxidase Antibody (anti-TPOAb) tests were performed at each subject. TSH and FT4 cut-off values
based on American Academy of Pediatric Guideline. Chi-square’s test was conducted with a significance
value of P<0.05. Results Thirty-three children with DS were included, 17 males and 16 females. The
karyotyping result showed that 32/33 children with trisomy 21, only one child with mosaicism. There were
18/33 children with thyroid dysfunction. Of these, 12/18 with central hypothyroidism, 5/18 with subclinical
hypothyroidism, and 1/18 with hyperthyroidism. Positive anti-TPOAb was found in 17/33 children, with the
highest prevalence was eight children among the subclinical hypothyroidism group. The mean age of children
with anti-TPOAb positive was 4.71±3.64 years. There was no correlation between anti-TPOAb and thyroid
dysfunction. A significant correlation was found between anti-TPOAb and low TSH level (P=0.042, OR=10).
Conclusion Central hypothyroidism is the most frequent type of thyroid dysfunction in children with DS.
The majority of hypothyroid children with DS suffer from autoimmune thyroid disease. Consequently,
antithyroid antibody screening is important.
Keywords: antithyroid antibody; Down syndrome; thyroid dysfunction

156 KONIKA XVIII Abstract Book