cholecalciferol and Kallmann-Syndrome

The Kallmann syndrome is a very rare congenital association of gonadotropin-releasing hormone deficiency and hyposmia or anosmia. Clinically it is characterized by low serum concentrations of testosterone and inadequate low levels of luteinizing hormone and follicle-stimulating hormone as well as incomplete sexual maturation, lack of secondary sexual features (facial and body hair growth, deepening of the voice), micropenis and sometimes even cryptorchidism. The reduced or absent sense of smell is typical for the Kallmann syndrome and distinguishes this syndrome from other causes of hypogonadotropic hypogonadism. Additional findings may include synkinesia, hearing loss, unilateral renal aplasia, brachy- or syndactyly, agenesis of corpus callosum, cleft palate and dental agenesis. A 19-year-old man presented to our male infertility clinic with delayed sexual maturation, eunuchoid habitus, micropenis, cryptorchidism, erectile dysfunction and absence of ejaculation, anemia and osteoporosis as well as low serum concentrations of luteinizing hormone, follicle-stimulating hormone and testosterone in combination with hyposmia.

Topics: Cholecalciferol; Chorionic Gonadotropin; Diagnosis, Differential; Drug Therapy, Combination; Follicle Stimulating Hormone; Humans; Infertility, Male; Inhibin-beta Subunits; Kallmann Syndrome; Luteinizing Hormone; Male; Menotropins; Testosterone; Vitamin D Deficiency; Young Adult

Two men (aged 44 and 47 years) were admitted with the diagnosis of Kallmann's syndrome, but they had widely different symptoms. The first patient (A) suffered from significant secondary symptoms, i.e. weight gain and skeletal pain, which had caused him to seek medical assistance. The second patient (B) had been admitted because of symptoms of depression, caused by separation from his female partner.. Patient A showed major somatic symptoms characteristic of the syndrome: eunuchoidism (physique, boyish voice, gynecomastia, micropenis and absent secondary sex characteristics). Further diagnostic tests revealed low testosterone concentrations (0.958 ng/ml; reference range 1.8 - 7.58 ng/ml) and low luteinizing hormone (LH) concentrations (<0.7 IU/l; reference range 0.8 - 7.6 IU/l), as well as infertility. Radiology showed marked osteoporosis, providing the indication for total hip replacement. Magnetic resonance imaging (MRI) of the skull and chromosomal analysis gave normal results. The physical development of patient B had progressed ever since hormone substitution after a suspected diagnosis of mumps orchitis in early childhood. However infertility was still present. Abnormal laboratory findings at admission: LH 0.10 IU/l (reference range 0.8 - 7.6 IU/l), follicle stimulating hormone 0.10 IU/l (reference range 1.2 - 10.1 IU/l), testosterone 10.0 ng/ml (reference range 1.8 - 7.58 ng/ml). A hypoplastic olfactory sulcus was shown by MRI, but no olfactory bulb. Mineral density of the femur was slightly diminished. Combined stimulation test of the pituitary gland revealed hypogonadotropic hypogonadism and anosmia in both patients.. In patient A administration of testosterone, calcium, colecalciferol and biphosphonates improved virilization and reduced skeletal pain. Continuation of testosterone, calcium and colecalciferol treatment, psychotherapy and antidepressive medication with paroxetine were initiated in patient B. His symptoms of depression were treated successfully, but personal and sexual relationships remained difficult and had many problems.. Early diagnosis of Kallmann's syndrome and symptomatic treatment with hormone replacement prevent patients from developing pernicious sequelae. However, sexual identity will be difficult even for patients treated after early diagnosis.

Topics: Adult; Androgens; Antidepressive Agents; Bone Density Conservation Agents; Calcium; Cholecalciferol; Depression; Diphosphonates; Humans; Hypogonadism; Kallmann Syndrome; Male; Middle Aged; Olfaction Disorders; Psychotherapy; Testosterone