Kallmann Syndrome with Syndactyly.

Kallmann syndrome is a rare genetic disorder marked by hypogonadotropic hypogonadism (HH) and anosmia, affecting 1 in 50,000 females. It is due to a defect of gonadotropin-releasing hormone (GnRH)-secreting neurons migration from the nasal olfactory epithelium to the basal hypothalamus. Non-reproductive, non-olfactory symptoms can also be present, depending on the genetic form of disease. The management includes hormone replacement therapy and fertility treatment. We report a case of Kallmann syndrome in an 18-year girl who presented with primary amenorrhea with poor, secondary sexual characteristics' development, poor sense of smell and syndactyly. The plasma levels of luteinising hormone, follicle stimulating hormone, and estradiol were very low, while chromosome analysis showed 46, XX karyotype. Pelvic MRI confirmed the presence of uterus and ovaries. MRI of brain was normal. Treatment was started with cyclic conjugated estrogen and progestin with good response. She is now on regular follow-up to monitor treatment.