ESPE Abstracts (2018) 89 P-P3-282

Insight of Differential Diagnosis of DAX-1 from Two Patients with Elevated Testosterone in Early Infancy

Tang Li & Juan Ge


Qingdao Women and Children’ Hospital, Qingdao, China


DAX-1 is Dosage-sensitive sex reversal - Adrenal hypoplasia congenita critical region on the X chromosome 1, caused by mutation of NR0B1. It commonly presents X-Linked adrenal hypoplasia congenital, hypogonadotropic hypogonadism and infertility. However, we observed two patients whose testosterone elevated in their early infancy. Both of them are males with uneventful gestation and birth, and have a primary symptom as jaundice. For patient 1, poor feeding and pigment genital area is observed. His maximal ACTH is more than 2000 pg/ml, minimal cortisol is 40.05 nmol/L, maximal testosterone is 14.33 ng/ml, serum sodium is 118.7 mmol/L, serum potassium is 8.1 mmol/L, and 17-hydroxyprogesterone is normal. Both sides of adrenal gland are undetectable by adrenal ultrasound. Gene analysis shows pathogenic mutation on NR0B1(NM_000475.4)Exon1: c.433_434insGGAT. For patient 2, there’s no other symptom or sign. His maximal ACTH is up to 2000 pg/ml, minimal cortisol is 0.71 nmol/L, maximal testosterone is 181 ng/ml, serum sodium is 121 mmol/L, serum potassium is 9.1 mmol/L, and 17-hydroxyprogesterone is 3.01 nmol/L. Adrenal ultrasound shows hypoechoic nodule in adrenal region which is similar to adrenal gland structure, the size is smaller than normal. Gene test finds NR0B1(NM_000475.4)Intron1: c.1169-1G>T. After the replacement of hydrocortisone and fludrocortisone, their levels of testosterone come down to normal range in 4 months, 6 months respectively. Bone age of Patient 2 is 2.5 years when his chronological age is 3 years and 4 months. Primary adrenal insufficiency combined with high level of testosterone tends to be misdiagnosed as congenital adrenal hyperplasia. With this report we can summarize DAX-1’s distinct features as follows: 1. DAX-1 is absent from elevated 17-Hydroxyprogesterone in general; 2. DAX-1 occurs delayed bone age which is opposite to congenital adrenal hyperplasia; 3. Adrenal ultrasound has certain value for recognizing DAX-1 and congenital adrenal hyperplasia; 4. Genetic testing is an optimal way to distinguish DAX-1 from other diseases. Overall, although DAX-1 commonly occurs hypogonadotropic hypogonadism at puberty or in early adult,gonad and sex hormones could be normal in early time.

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