Page 194 - Abstract Book KONIKA 18

Endocrinology

P-ENDO-035
Achondroplasia in A 3 Year Old Boy: A Case Report

Novia, Melda Deliana, Karina Sugih Arto, Siska Mayasari Lubis
Child Health Departement, Faculty of Medicine, Universitas Sumatera Utara, Medan, North Sumatera, Indonesia

Abstract
Background Achondroplasia is the most common of the skeletal dysplasia that result in marked short stature,
occurring in approximately 1 in 30,000 live births. Achondroplasia can be diagnosed according to clinical
examination, radiographic findings and confirmed by finding mutation in fibroblast growth factor receptor
(FGFR) 3 genes by molecular genetic testing. Objectives To report a case with achondroplasia that was
diagnosed by clinical examination and radiographic findings. Case Three year old boy with main complaint
of short stature and enlarged head. Body weight was 11.5 kg (p25-50 curves of achondroplasia), body length,
73 cm (p50-p75 curves of achondroplasia). Potential genetic height 159.5-176.5 cm. Head circumference
49 cm (p5-50 curves of achondroplasia). Upper/lower segment ratio: 1.43 (N=1.3), arm span 68 cm. He has
frontal bossing, low nasal bridge, rhizomelic shortening of the arms and legs, limitation of elbow extension,
brachydactyly-trident configuration, and genu varum. The radiological result: antero–posterior and lateral
of the head was above of normal limit, scalloping of thoracal and lumbar vertebrae, champagne-glass type
pelvic inlet, bowing in the fibula. Growth plates are shortened. The patient was diagnosed with achondroplasia
according to clinical examination and radiographic findings. Molecular genetic testing can’t be performed due
to limited cost. Bowed legs were treated by bracing or orthopedic surgery. Monitoring for the complication
of spinal stenosis, central apnea and hydrocephalus are still needed. Conclusion Patient was diagnosed with
achondroplasia according to clinical examination and radiological findings. Regular monitoring is needed
to evaluate the complication of achondroplasia.
Keywords: zchondroplasia; brachydactyly; FGFR-3 gene; short-stature

P-ENDO-036
Congenital Adrenal Hyperplasia In 5-month-old Girl

Misjunaling Palayukan, Ratna Dewi Artati
Endocrinology Division, Department Of Child Health, Faculty of Medicine Universitas Hasanuddin/
Dr.Wahidin Sudirohusodo Hospital Makassar, South Sulawesi, Indonesia

Abstract
Background Congenital adrenal hyperplasia is an inherited autosomal recessive disease that causes the
impaired synthesis of steroid hormones. Congenital adrenal hyperplasia can induce an adrenal crisis that
leads to death if not recognized and treated properly, especially in boys, but in girls, it can be treated more
quickly because of the virilization seen in the external genitalia. Objective To describe the diagnosis of CAH
in a 5-months old girl. Case A 5-month old baby girl was admitted to the hospital with chief complaint
of vomiting since the previous day more than 6 times. There was a history with the same complaint since
the baby was 2 weeks of age and frequent hospitalization. The patient’s brother also often complained of
vomiting and weakness since he was 4 weeks of age and died at 6 months of age. On physical examination
there was dehydration, with tachycardia and tachypnea. The genitalia look phallus with 1.5 cm in size. On
the laboratory examination there were hyponatremia, hyperkalemia, low cortisol, high testosterone and
high 17-OH progesterone levels. The Abdominal ultrasound showed left adrenal hyperplasia. The bone
age was appropriate for 3 months old. The treatment for this patient was oral hydrocortisone and sodium
chloride supplementation. The patient improved and the family was educated about lifelong hydrocortisone
treatment and recognizing the signs of adrenal crisis. Summary A Case of CAH in a 5-month-old girl with
dehydration and electrolyte imbalance had been reported. Diagnosis was based on history taking, physical
and laboratory examination and bone age. The patient received oral hydrocortisone and oral sodium chloride
supplementation. The prognosis is dubious.
Keywords: congenital adrenal hyperplasia; impaired steroid hormone synthesis; adrenal crisis

146 KONIKA XVIII Abstract Book