Endocrine Abstracts

Introduction

Premature ovarian insufficiency (POI) is characterized by the loss of ovarian activity before the age of 40. It is associated with hypoestrogenism, raised gonadotrophins and oligomenorrhea or amenorrhea. POI is a heterogeneous disease that can result from different etiologies, including genetic, autoimmune, and iatrogenic. Of the genetic causes, single-gene mutations and chromosomal imbalances involving X chromosome or autosomes have been associated with POI. Here, we report a case of a 36-year-old patient with POI associated with a small supernumerary marker chromosome 15 (sSMC(15)).

Case presentation

A 36-year-old woman with normal intellect and no particular past medical history, had menarche at age of 13 followed by regular menses. She had no pregnancies before and she presented a secondary amenorrhea evolving for 8 years. The physical examination was unremarkable especially she had normal height, normal secondary sex characteristics, and no dysmorphic features. Hormonal tests revealed normal FT4, TSH, prolactin, elevated FSH in the menopausal range (82.43 mUI/ml) and AMH was too low at 0.04 ng/ml (reference: 0.03–7.15). Therefore, the diagnosis of premature ovarian was made and the patient was treated with hormone replacement therapy. Pelvic ultrasound demonstrated a normally placed and normally developed uterus and the ovaries were small without follicles. Her karyotype showed in 86% of metaphases analyzed the presence of a small supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) showed the sSMC to be originating from chromosome 15, dicentric and most likely containing only heterochromatic material [mos 47, XX, +mar[39]/46, XX[6]. ish idic(15)(q11)(D15Z4++, SNRPN-)]. Parental karyotypes were normal confirming the de novo occurrence of the sSMC.

Conclusion

Several studies reported an increased incidence of sSMC(15) in infertile males, whereas in females, relationship between SMCs and infertility is still debated. Further precise molecular studies on sSMC are needed in the future to characterize the implication of sSMC in POI.