ESPE Abstracts (2014) 82 P-D-3-1-962

46,XY Female with Turner Syndrome, Crohn's Disease and Low Level Mosaicism for Monosomy X

Emir Tasa, Svetlana Yatsenkob,c & Jadranka Popovica


aDepartment of Pediatric Endocrinology, Children’s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA; bDepartment of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA; cDepartment of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA


Introduction: Turner syndrome (TS) is characterized by short stature and premature ovarian failure. Genetic component of TS patients with diagnosis of inflammatory bowel disease has not been largely studied.

Case Report: A 94/12-year-old girl with history of Crohn’s disease was evaluated for short stature. Her disease was well controlled with medications, however she continued with linear growth failure. Medical history included frequent ear infections, speech delay, ADHD and learning and emotional support. She was short (height<2SD), had hypertelorism, micrognathia, overcrowding of teeth, high arched palate, low posterior hairline, dysplastic nails, cubita valga and widely spaced nipples. She was pre-pubertal with normal female external genitalia without clitoromegaly. Karyotype from peripheral blood showed mosaicism for a 45,X cell line in ~11% of the cells and 46,XY male chromosome complement in ~89% of metaphase cells. Fluorescence in situ hybridisation ISH analysis using the X chromosome centromere specific and the SRY probes showed that ~80% of the interphase cells had both X and Y chromosomes with the intact SRY gene. FISH analysis on a urine sample demonstrated monosomy X in ~44% of the cells, while 56% of cells showed signals for both X and Y chromosomes. Pelvic US showed presence of uterus. No gonads were identified. She had low testosterone (<0.1 ng/dl), LH (0.46 mIU/ml), anti-Mullerian hormone (<0.03 ng/ml) and inhibin (<10 pg/ml). FSH was elevated (29.8 mIU/ml).

Conclusion: Approximately 5–10% of the TS patients have 46,XY cell line. Phenotype is variable depending on the type and function of the gonadal tissue. Our patient is a phenotypic female despite a predominant male chromosome complement in the peripheral blood, however the level of cells with monosomy X in the urine is significantly higher. Our data indicate the necessity of studying more than one tissue from each patient to reveal a tissue-specific differences in the proportion of cells with different chromosome complement.

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