ESPE Abstracts (2018) 89 P-P1-199

Growth Hormone Deficiency and Cryptorchidism in a Family with Xq26.3 Duplication and Position Effect on SOX3

Felix Reschkea, Arne Jahnb, Andreas Tzschachc, Jens Schallnerd, Maja von der Hagend & Angela Huebnera

aDepartment of Paediatric Endocrinology and Diabetology, University Children’s Hospital of Dresden, Dresden, Germany; bInstitute of Genetics, University of Dresden, Dresden, Germany; cInsitute of Genetics, University of Dresden, Dresden, Germany; dDepartment of Neuropaediatrics, University Hospital Dresden, Technische Universität Dresden, Dresden, Germany

SOX3 is located on the X-chromosome (Xq27.1) and encodes a SRY-related protein that acts as a developmental transcription factor. Copy Number Variations (losses and gains), mutations of polyalanine stretches (deletions or expansions) and missense mutations of SOX3 have been associated with growth hormone deficiency with incomplete penetrance, hypogonadism, differences of sexual development and variable additional endocrine disorders (MIM #312000 and #300123). We report on a family in which three male members (aged 40 years; 4.3 years and 6.3 years at presentation) with growth hormone deficiency and cryptorchidism/hypogonadism. Array CGH analyses revealed a novel 3.3 Mb duplication in Xq26.3-q27.1 that was located 86 kb downstream of SOX3 on the X-chromosome in all three patients. Female carriers of the duplication were detected, but are clinically healthy. We hypothesize that this duplication exerts a position effect on SOX3 transcription. Further investigations in familiar growth hormone deficiency, cryptorchidism, and ectopic pituitary gland must be performed to learn more about the role of the copy number variations in the vicinity of SOX3.

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