
MOLECULAR ANALYSIS OF A FAMILY WITH
CONGENITAL ADRENAL HYPERPLASIA –
GENOTYPE/PHENOTYPE DISCREPANCY Anastasovska V, Kocova M* *Corresponding Author: *Corresponding Author: Professor Dr. Mirjana Kocova, University Pediatric Clinic, Medical Faculty,
Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3111713; Fax: +389-2-3229-027;
E-mail: mirjanakocova@yahoo.com page: 23
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CASE REPORT
The patient was a 5 and a half-year-old girl, born as the first child of healthy young parents who had been. treated for sterility for 9 years. She was conceived by in vitro fertilization. No data were available about the cause of infertility. Mother did not have any health problems. She did not have hirsutism, nor precocious puberty. The father was a healthy individual, and was told that he had a poor sperm count during the sterility treatment. Both parents are Macedonians of Slavic descent. The birth weight of the girl was 3,000 g and birth length was 50 cm. She was developing normally. At the age of 5 years, pubic hair appeared and she was referred to the hospital for hormonal work-up. Clinical examination revealed a healthy and well-developed female child with pubic hair P2 according to Tanner [13]. The clitoris was enlarged (stage 2 according to the Prader classification of sexual ambiguity) [14]. No other pubic signs or abnormalities were detected. Her growth was at 90%o, and her weight at 75%o according to the Tanner-Whitehouse charts [15]. Bone age was advanced and was 9.5 years at diagnosis [+2.5 standard deviation (SD)]. 17-OH Progesterone was 4.0 ng/mL (within the normal range), but after stimulation with ACTH, reached 257 nmol/L at 2 hours (normal peak up to 121 nmol/L). The testosterone level was 2.51 nmol/L (normal range 0.19-2.67 nmol/L), and Dihydroepiandroster-one-S levels were normal.
She was diagnosed with a simple virilizing form of CAH. Treatment with hydrocortisone (7.5 mg twice daily divided) stopped the development of pubic hair, and improved the height/bone age ratio. Three years after diagnosis she grew at 75%o and her pubic hair is P3 according to Tanner.
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