A 21-year-old Man with Delayed Puberty

Delayed puberty is defined clinically by the absence or incomplete development of secondary sexual characteristics bounded by an age at which 95 percent of children of that sex and culture have initiated sexual maturation. The upper 95th percentile in the for age for boys is 14 (an increase in testicular size being the first sign) and for girls is 12 (breast development being the first sign). Delayed puberty pathophysiologically is classified according to the circulating levels of the gonadotropins luteinizing hormone (LH) and follicle-stimulating hormone (FSH) in to two groups of high serum LH/FSH and low or normal serum LH/FSH concentrations which are related to primary hypogonadism and hypothalamic dysfunction respectively. Patient Presentation. A 21 year old boy presented with severe respiratory distress syndrome due to pneumonia and generalized edema. Laboratory studies showed pancytopenia which made clinicians work up for hematologic disorders, leading to bone marrow aspiration and biopsy which was consistent with megaloblastic anemia resulting from vit B12 deficiency. Another manifestation of this patient was delayed puberty which had been ignored over these years. Evaluation of delayed puberty revealed a low serum LH/FSH concentration. Accompaniment of delayed puberty resulting from hypothalamic origin with edema and hypoalbuminemia made clinicians work up for a malabsorption syndrome. Therefore upper endoscopy and colonoscopy were done and duodenal biopsies were consistent with celiac sprue. The unusual symptom of this patient was vit B12 deficiency which is rare in celiac disease. Conclusion. Neglected celiac sprue can be accompanied by vit B12 deficiency probably because of involvement of more distal parts of small intestine over the time.