60 U/L
   CK-MB              747↑       0--25 U/L
   Myoglobin          72↑        0.72--4.49 nmol/L
   Creatinine         48         15--77 μmol/L
   CPK                3,876↑     26--140 U/L
   HBDH               580↑       72--300 U/L
   HCO~3~ ^−^         28.7↑      22.0--27.0 mmol/L
  Hormones                       
   ACTH               403.76↑    0.00--90.16 pmol/L
   LH                 15.89↑     0.33--6.10 IU/L
   FSH                43.90↑     1.37--6.97 IU/L
   Cortisol~8:00am~   0.06↓      0.22--1.10 μmol/L
   PRA                \<0.09↓    0.09--5.93 nmol/L/h
   Progesterone       7.98↑      1.27--3.82 nmol/L
   Aldosterone        115.56↓    168.88--723.78 pmol/L
   17-OHP             0.10↓      0.80--1.80 nmol/L
   Androstenedione    \<1.05↓    1.05--11.57 nmol/L
   Estradiol          \<43.32↓   136.76--315.00 pmol/L
   Testosterone       0.59↓      0.70--1.70 nmol/L
   DHEA-S             0.25↓      0.90--15.96 μmol/L

AST, aspartate aminotransferase; ALT, alanine aminotransferase; LDH, lactate dehydrogenase; CK, creatine phosphokinase; CK-MB, creatine kinase muscle/brain; CPK, creatine phosphokinase; HBDH, hydroxybutyrate dehydrogenase; ACTH, adrenocorticotropic hormone; PRA, plasma renin activity; LH, luteinizing hormone; FSH, follicle-stimulating hormone; 17-OHP, 17*α*-hydroxyprogesterone; DHEA-S, dehydroepiandrosterone sulfate.

![Clinical evaluations. **(A)** Electrocardiogram revealing signs of hypokalemia with sinus tachycardia and ST-T changes. **(B)** Pelvic ultrasound showing that the size of the uterus is about 1.4 cm × 0.4 cm × 0.7 cm. **(C)** Pelvic ultrasound also showing that the size of the suspected right ovary is about 1.0 cm × 0.5 cm × 0.5 cm but the left ovary is undetectable. **(D)** X-ray imaging of the phalanx, carpal, and radioulnar bones. Greulich-and-Pyle methods are used to evaluate bone age.](fgene-10-00996-g001){#f1}

Genetic Diagnosis {#s3_2}
-----------------

Genomic DNA was extracted from p