SAT-301 Mixed Gonadal Dysgenesis: A Case Report

Abstract

INTRODUCTION: An ambiguous genitalia is a birth defect of the sex organs that makes it unclear whether an affected newborn is a girl or a boy. This condition occurs approximately 1 in every 4,500 births. Defects of the external genital organs (penis, testes, or clitoris) usually result from abnormal levels of sex hormones in the fetus before birth. Here we present a case report of an 18year old girl with ambiguous genitalia. CLINICAL CASE: An 18-year-old girl presented with complaints of primary amenorrhea along with lack of secondary sexual characters. Her mother also gave history of genital ambiguity. No history of recent change in sexual identity. Past history, family history, antenatal history, perinatal history and developmental history were non contributory. On examination, anthropometric measurements were appropriate for her age. She was normotensive. General and systemic examination were unremarkable and there were no Turner stigmata. Genital examination revealed phallic structure of 5cm length and two seperate perineal openings. Minimal posterior fusion of labial margins and a palpable mass were noted in left inguinal region. Prader staging was 3/5. Sexual maturity rating was A0P1B2. Her basal serum cortisol 14.53μg/dL,[5-25μg/dL], 17-OH-progesterone (17-OHP) 1.51ng/mL,[0.09-2.19ng/ml] and serum estradiol level 37 pg/ml [13.6-54.4pg/ml] were normal while basal androstenedione 2.23 ng/ml[0.29-1.44 ng/ml], serum testosterone 1ng/mL [ lt 0.6ng/ml]and gonadotrophins Pooled LH 22 IU/L [5-15IU/ml] and FSH 76.37 IU/L [5-20IU/ml] were elevated. Karyotype analysis was 46XY. MRI pelvis revealed absent mullerian structures and ovaries, presence of seminal vesicle and left inguinal subcutaneous sac, containing gonad, suggestive of testis was noted. Intra abdominal right gonad was detected on diagnostic laparoscopy. No vas deferens noted in entire deep inguinal ring. Left gonad noted in its entirety in left deep inguinal ring. Rudimentary uterus was also noted. Histopathological examination of gonadal biopsy revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY mixed gonadal dysgenesis was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation. The patient underwent feminizing genitopasty after discussion with the patient’s caregivers. CONCLUSION: Mixed Gonadal Dysgenesis represents an intermediate between pure gonadal dysgenesis and ovotesticular disorder of sexual differentiation (DSD). The external genitalia, internal genitalia, and gonadal phenotype are highly variable. The most common genotype in these patients is 46XO/XX, however 46XY genotype has also been described, which can be difficult to distinguish from 46XY ovotesticular DSD.