ESPE Abstracts (2021) 94 P2-40

ESPE2021 ePoster Category 2 Adrenals and HPA Axis (57 abstracts)

Retrospective Evaluation of Cases Diagnosed with Classical Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency

Nafiye Ünsal 1 , Selin Elmaoğulları 2 , Şenay Savaş Erdeve 2 & Semra Çetinkaya 2

1Dr. Sami Ulus Children Hospital, Pediatrics, Ankara, Turkey; 2Dr. Sami Ulus Children Hospital, Pediatric Endocrinology, Ankara, Turkey

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. Diagnosis, monitoring of treatment, adjustment of drug doses are important for height, puberty and psychologic status of patients and their families.

Materials & Methods: Patients with classical CAH due to 21-hydroxylase deficiency who were followed regularly in pediatric endocrinology clinic between 1994 and 2019 were included in this study. Informations of admission, follow-up, control and laboratory findings were obtained from electronic file data of patients.

Results: Half of the patients were female. 30% of the virilized female patients’ families were informed wrongly about their babies’ gender. The mean age of diagnosis was 55.8±76.8 days (5 days -10 months) in patients with SW-CAH and 3.56±2.36 years (50 days -6 years and 7 months) in patients with SV-CAH. Vomiting, inability to gain weight, suspicious genitalia were the most common complaints at admission. Half of the cases had consanguinity between their parents, 65% had a family member with CAH and 38% of cases were siblings. Clinical status was variable among siblings. 42% of patients were diagnosed with hyponatremia at neonatal period. 75% of cases were SW and 25% of cases were SV. 9 patients were diagnosed by standart dose ACTH test. 44% of patients had a good metabolic control. 44% of patients needed corrective surgery due to ambiguous genitalia. Two 46XX patients were raised as male. 23% of patients had treatment for puberty precocious with a mean duration of 3±1.7 (1-5) years and had a mean height gain of 10.5±6.6 (3-24) cm. 8 patients treated for puberty precocious reached final height. Final height-SDS values of these patients were -2.07±1.47 [(-3.95-(+0.34)]. Although hydrocortisone doses, body mass index-SDS and target height-SDS values of SW and SV were similar, final height SDS values of SW were less than SV (P = 0.029). 7 patients had obesity, 8 patients had hypertension, 4 patients had insulin resistance, 3 patients had dyslipidemia, 6 patients had short stature, 6 patients had adrenal rest tumor, 5 patients had enuresis, 2 patients had massive acne, 2 patients had gynaecomastia, 1 patient had amenore, 1 patient had epilepsy due to hypoglicemic convulsion, 2 patients had ovarian cyst, 1 patient had major depression, 1 patient had psychosis (schizophrenia), 1 patient had anorexia nervosa, 1 patient had autism and 1 patient had mild mental retardation. IVS2 homozygous mutation was most frequent genetic defect.

Conclusion: Close follow-up and psychological support is required for monitoring of chronic diseases like CAH.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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