MON-LB072 Primary Partial Empty Sella Presenting with Prepubertal Hypogonadotropic Hypogonadism: A Case Report

Abstract

Objective: This is case report which discusses the approach to diagnosis of a 20 year old male presenting with micropenis and absent secondary sex characteristics. Methods: On physical examination, the patient he has eunuchoid habitus, gynecomastia, and a genital and pubic hair development of Tanner Stage 1. He has a flaccid and stretched penile lengths of 2.5 and 3 centimeters respectively, palpable small, firm left testis and undescended right testis. Neurologic examination was unremarkable except for anosmia. Cranial MRI with contrast are suggestive of partially empty sella. Chromosome analysis was done revealing a karyotype with no numerical and structural aberrations and an XY sex chromosome. He has delayed bone age using Greulich-Pyle method and hormonal tests showed low testosterone, LH, FSH, Estradiol and Beta HCG. Results: The patient has no history of pituitary mass, surgery or radiation. However, his mother used an abortifacient on 5th week of pregnancy. With this history, together with the physical examination and diagnostic results of 46XY chromosome, cranial MRI finding of partial empty sella, delayed bone age, and hormonal tests showing low testosterone, LH, FSH, Estradiol and Beta HCG, the patient was diagnosed with Primary Partial Empty Sella Syndrome (Prepubertal Hypogonadotropic Hypogonadism). Conclusion: The incidence of PES varies depending on means of diagnosis ranging from 5.5-35% in general population. It may display with various endocrine problems. However, prepubertal hypogonadotropic hypogonadism as its main manifestation, presenting as micropenis and lack of secondary sex characteristics is rare since its peak incidence commonly occurs late at 30 to 40 years of age and has a sexual predilection for female with female to male ratio of approximately 5:1. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. s presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.