Microcephalic (Majewski) Osteodysplastic Primordial Dwarfism Type Ii With Severe Hyperandrogenism

ABSTRACT Objective: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an extremely rare disorder. Studies have shown its association with polycystic ovary syndrome (PCOS) and severe insulin resistance. We are presenting a case of MOPD II with severe hyperandrogenism, which has never been reported before. Methods: We present the history, physical exam findings, and laboratory results of an 18-year-old girl with a known case of MOPD II, who presented with symptoms of hyperandrogenism. Results: An 18-year-old girl with a known case of MOPD II presented in the endocrine clinic with complaints of increased facial and body hair and amenorrhea for 5 years. On physical examination, she had short stature, scoliosis, and bowing of legs. Marked hirsutism was present in male pattern of distribution. Her lab investigations showed an extremely high testosterone level of 217 ng/dL and a free androgen index of 49%. 17-Hydroxyprogesterone was 1.48 ng/mL, dehydroepiandrosterone was 85.50 μg/dL, and serum insulin was 89.75 μIU/mL. Abdominal imaging was unremarkable, with normal ovaries and adrenal glands. Conclusion: PCOS has a known association with MOPD II, but this degree of clinical and biochemical hyperandrogenism is unusual in PCOS. In addition, imaging did not reveal any source of the high testosterone level. However, invasive testing to search for a cause is needed to find out if there is any association of MOPD II with testosterone-producing tumors. Abbreviations: MOPD II = microcephalic osteodysplastic primordial dwarfism type II; PCOS = polycystic ovary syndrome