Endocrine Abstracts

Introduction: Kallmann syndrome, a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons It can be autosomal dominant, autosomal recessive, or X-linked inheritance.

Case report: A 16-year-old male student, presented to endocrinology unit with delayed puberty. He was born to consanguineous parents and had normal delivery. He had normal developmental mile stones. Bilateral cryptorchidism was discovered at age six, associated with hyposomia but no hearing defect or oral cavity abnormalities. He was diagnosed with anosmia. Skull magnetic resonance imaging (MRI) revealed hypo plastic olfactory bulbs and shallow olfactory grooves, along with a normal pituitary gland and a normal pituitary stalk. No history of deepening of voice or morning erection Physical examination: Height : 164 cm, arm span was 169 cm, BMI: 17, no gynecomastia Genital examination showed Tanner stage 1 (penis 3 cm, empty scrotum at time of examination with no corrugation & absent axillary & pubic hair) Neurologic examination was otherwise unremarkable except for decreased sense of smell.

Investigations: ACTH:12 pg/ml(10-60), TSH:3 mIu/l(0.4-5), PRL was 13 ng/dL(N: <20 ng/dl), FSH : 0.71 IU/ml (1.4-18), LH :0.1 IU/ml (Adult:1.7-8.6, prepubertal up to 6), Total Testosterone:1.79 ng/ml (>2.5 ng/ml) Scrotal ultrasound revealed: both testes are ectopic in location rt :at the RT inguinal canal, LF seen in left scrotal neck, both tests are small in size for patient age RT 13x5.8x13.6 mm/lF 10x5x11.3 mm Chromosome analysis showed 46, XY He was prescribed human chorionic gonadotropin 5000 IU weekly for 6 weeks and testosterone cream daily, with a 25 mg of intramuscular testosterone injection and were then increased by 25 mg every two weeks Regular follow-up showed a change in voice and appearance of coarse pubic hair. Morning erections was reported, the testes and penis increased in size respectively (testes = 2 cc, phallus = 4 cm). Serum testosterone increased to 1.5 ng/ml

Conclusion: Clinical abnormalities during childhood such as cryptorchidism, anosmia or pubertal delay should be considered warning signs to start diagnosing Kallmann’s syndrome. Early diagnosis triggers the initiation of multidisciplinary care in Pediatrics and adolescent medicine Timely treatment is relevant to restore metabolic, bone, sexual balance and psychosocial effects. Gonadotropin and pulsatile GnRH therapy are the treatment of choice to induce fertility Spermatogenesis can be induced in the majority of these patients and fertility rates are above 50%.