Figure 1.

Long-term follow up in a male with 3βHSD2D deficiency. The TARTs were revealed by age 13 years, when the patient’s height began to flatten (progressed bone age), and they gradually enlarged. Despite the depicted intensification in treatment (glucocorticoids and fludrocortisone), minimal response to DHEAS levels was observed. The increasing weight reflected the negative metabolic control. Finally, a bilateral orchiectomy was performed when the patient was 33 years old. The DHEAS concentrations were still markedly elevated at the last follow-up at 34 years of age.