Background: Congenital lipoid adrenal hyperplasia is an autosomal recessive adrenal and gonadal steroidogenesis disorder usually caused by a genetic abnormality in the STAR gene encoding the steroidogenic acute regulatory protein (StAR). For 46,XY cases, sex steroid hormone replacement therapy must be initiated together with glucocorticoid and mineralocorticoid treatment.
Objective and hypotheses: We present the case of a 30-year-old female with a tall stature and 46, XY congenital lipoid adrenal hyperplasia.
Method and results: The phenotypically female infant was born at term via normal delivery and weighed 4000 g. She exhibited skin pigmentation over her entire body and developed spasms due to low plasma glucose levels 24 h after birth. Although a chromosome study revealed a 46,XY pattern, she presented with female-type external genitalia and was assigned the female gender. At 2 months of age, an ACTH-Z loading test revealed no reaction with 17-OHCS and 17KS. Therefore, the patient was diagnosed with congenital lipoid adrenal hyperplasia and began corticosteroid replacement therapy. Gonadectomy was performed at 6 years of age, after which only prescribed therapy was continued. At 25 years of age, she was recommended to visit a gynecologist, but she refused because of a long distance. She consulted a pediatric endocrinology clinic at 30 years of age. Her height and weight were 189.5 cm and 107 kg, respectively, and she presented with Tanner stage 1 breast development and a bone age of 12 years. A previously reported homozygous A218V mutation was confirmed through STAR gene analysis. Oral estrogen therapy was initiated, and after 6 years her height and weight were 193.5 cm and 90 kg, respectively; closure of the epiphyseal line was confirmed, and her bone age was 17 years. An orthopedic physician prescribed bisphosphonate because of osteoporosis.
Conclusion: It is necessary to initiate estrogen replacement at an appropriate age to ensure closure of the epiphyseal line in individuals with hypogonadism. In this case, osteoporosis was attributed not only to delayed estrogen replacement, but also to an excessive steroid dose.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology