Introduction: Non-classical congenital adrenal hyperplasia is the most common pathological cause of early pubarche in prepubertal patients. However, this may also be the first manifestation of central precocious puberty or an androgen producing suprarrenal or ovarian tumor.
Objective: To present a clinical case initially misdiagnosed as Congenital Adrenal Hyperplasia that turned out to be an Ovarian Tumor of Leydig Cells.
Clinical case: An 8-year-old girl is presented with early pubarche and hirsutism, referred for further evaluation. Her height was in percentile 75 (target height: 25th percentile), her BMI in percentile 90, and blood pressure was normal. She presented hirsutism (Ferriman score 8), breast Tanner 1, pubic hair Tanner 3 and a normal clitoris. Laboratory study showed elevated androgens levels: testosterone of 47.2 ng/dl, androstenedione of 5.1 ng/ml, basal 17-hydroxi-progesterone (17OHP) of 15 ng/dl, and normal DHEAS (0.26 μg/ml) as well as Plasma Renin Activity (0.22 ng/ml per h). Initial imaging study showed an advanced bone age (11 years for a chronological age of 8 years 4 months) and a normal abdominal and pelvic ultrasonography. No pathogenic variants in the CYP21A2 gene were found. Since she could have congenital adrenal hyperplasiaanother with a defct in another gene, she was treated with hydrocortisone (12 mg/m2). Pubertal development started at 8.7 years; then analogues of LHRH were initiated. Despite both treatments, signs of virilization accentuated progressively along with elevation of androgens (testosterone as high as 120 ng/ml). Although different therapeutic schemes with hydrocortisone, prednisone and dexamethasone were tried, it was not possible to reduce testosterone levels. Then abdomen and pelvis MRI was performed, showing a solid nodular image of 2.1×1.6 cm in the right ovary. Biopsy analysis after laparoscopic oophorectomy demonstrated a Leydig cell tumor. One month after surgery, the patient normalized all androgenic levels and gradual suspension of corticosteroids was started.
Conclusions: In the presence of early pubarche, hirsutism and high 17OHP levels, Non-Classical Congenital Adrenal Hyperplasia should be suspected. But when no pathogenic variants in the CYP21A2 gene are present and it is associated with progressive clinical and biochemical hyperandrogenism despite an adequate treatment, MRI should be performed to ruled out androgen producing tumors.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology