ESPE Abstracts (2022) 95 P2-9

ESPE2022 Poster Category 2 Adrenals and HPA Axis (27 abstracts)

Thrombocytosis as a Rare Manifestation in Salt Wasting Congenital Adrenal Hyperplasia: A Case Report

Novina Novina 1,2 , Aprimadhansari Aprimadhansari 1 , Wendi Nurfandi 1 , Ratna Sunhaya 1 , Citra Saraswati 1 & Jessica Oktavianus Trisaputra 1

1Endocrinology Division, Department of Child Health, Faculty of Medicine Universitas Padjadjaran, Bandung, Indonesia; 2Hasan Sadikin General Hospital, Bandung, Indonesia

Introduction: Congenital adrenal hyperplasia (CAH) has an incidence of 1:14 000 to 1:18 000 worldwide. It is caused by autosomal recessive gene mutations. Neonates typically present with virilization at birth, or in shock, ‘salt-losing crisis’, around days 10–14 of life. Some children present later with simple virilizing CAH, often with milder compound heterozygous mutations. Reactive thrombocytosis is a rare manifestation in CAH. Gasparini et al, reported 1 case of CAH with thrombocytosis in 1996. Pathophysiology of thrombocytosis in CAH is still unknown. But might occur due to the metabolic stress and resolved after adequate treatment.

Case report: Two months old girl came to emergency room with profuse vomiting 4 days before admission. She vomits about 2-5 times a day. The patient looked thirsty, fatigue and decreasing of body weight. Patient is the third child from P3A0 mother, born at 39 weeks gestational age. Anthropometrics examination showed body weight was 3,75 gr, body length was 52 cm and head circumference 37 cm. The body weight for age was -2,28 SD, height for age was -2,49 SD, body weight for length was 0,03 SD and head circumference for age was -1,04 SD based on WHO Growth Chat Standards. Physical examination showed sign of mild dehydration. Genital examination showed clitoromegaly, vagina, hyperpigmentation of labia majora with Prader stage III. There is no testis palpable. Laboratory examinations showed thrombocytosis (811.000/mm3), hyponatremia (102 mEq/L), hyperkalemia (7,5 mEq/L), normal blood glucose, normal urinalysis, and elevated 17-OH-Progesterone (134,55 ng/mL). Other hematologic tests are within normal limit. Chromosome analysis is 46 XX. Electrocardiogram result is within normal limit. The cause of thrombocytosis in this case cannot be explained aside from CAH condition. During hospitalization, the patient was given rehydration with natrium chloride 0,9% solution, hydrocortisone and fludrocortisone orally. The patient shown improvement after 4 days hospitalization but thrombocytosis still persists. The patient recovered uneventfully and discharged on day 4.

Conclusion: Thrombocytosis is typically transient, but duration depends on the etiology. Severe and extreme thrombocytosis rarely persists, often declining within 3 days of discovery and are more common in young patients. In CAH thrombocytosis happened due to the dehydration and metabolic disorder condition. As a pediatrician, first we should exclude infection since it is the most common etiology of thrombocytosis in children. According to literature thrombocytosis in CAH resolves after the metabolic disorder improve.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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