Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)
IMPE Abstracts (2023) 96 P98

1Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil. 2Hospital Israelita Albert Einstein, Sao Paulo, Brazil


Background: Translocations involving the X and Y chromosome are rare in humans. Here we describe two cases diagnosed during the investigation of short stature. Case 1: She was born at 38 gestational weeks (GW), with birth weight (BW) SDS -1.5 and birth length (BL) SDS -2.7. At the first assessment, she had a chronological age (CA) of 11.3ys, a height SDS of -2.2, a sitting height-to-height SDS of 4.6, and Madelung´s deformity. The height SDS of her mother and maternal grandmother was -3.5 and -2.0, respectively. A karyotype revealed a 46X t(X;Y) (p22.3; q11.2). Her mother and maternal grandmother have the same alteration. She had normal pelvic ultrasound, echocardiogram, and audiometry. A microarray showed an Xp deletion encompassing 64 genes, including SHOX gene (arr[GRCh38] Xp22.33p22.31(302942-8480277)x1) and Yq gain (arr[GRCh38] Yq11.221q12(13948013-26673214)x1). Case 2: She was born at term with BW SDS -0.9 and BL SDS -1.6. At the first evaluation (CA 10y), she had a height SDS of -2.2 and no Madelung´s deformity. Parents had height above the mean. On initial investigation, she had a karyotype that shows 46,X, add(X)(p22.3). The microarray reveled Xp deletion encompassing 59 genes included SHOX gene (arr[GRCh38] Xp22.33p22.31(624383-8530103)x1) and arr[GRCh38] and Yq gain (Yq11.221q12(14076802-22375261)x1). Parents have normal karyotype. Discussion: The short stature observed in both patients is because SHOX haploinsufficiency. The concern when identifying the Y fragment in the karyotype is that female individual with digenetic gonad and Y-derived seem to have a high risk of developing gonadoblastoma (10–30%). For this reason, gonadectomy is recommended in all females with Turner syndrome and Y-chromosome material. The presence of a predisposing gene mapped in the pericentromeric region of Yp (GBY, gonadoblastoma locus on the Y-chromosome) is associated with this risk. In contrast, in Xp22;Yq11 translocation female, no gonadoblastoma has been described, probably do to the absence of a Y-centromere fragment. The description of a family with three generations of women with 46X t(X;Y) reinforces the orientation of not indicating prophylactic gonadectomy in this cases. Beside the short stature, females may have mild intellectual disability (10%), facial dysmorphism (28%), and cardiac defects (3.4%). Conclusion: As there was not enough lifelong follow-up in this female with 46X t(X;Y) to rule out any risk of development of gonadoblastoma, screening with periodic pelvic ultrasound and tumor markers should be considered.

Volume 96

IMPE 2023

Buenos Aires, Argentina
04 Mar 2023 - 07 Mar 2023

International Meeting in Pediatric Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.