Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis

Tang, Ruiyi; Liu, Xiao; Pan, Lingya; Chen, R

doi:10.1016/j.fertnstert.2019.01.027

Cited by 7 publications

(2 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In PubMed/Medline databases of the last 15 years, 30 patients reported as familial cases of Swyer syndrome were found in whom genetic evaluation was performed [6,15,16,[19][20][21][22][23][24][25][26][27] (Table 1) (method of searching shown in Supplementary Material File S1). The majority of them (27 out of 30) had undergone gonadectomy, and gonadal tumors were present in 18 out of 27 patients (66.6% of cases).…”

Section: Discussionmentioning

confidence: 99%

“…The rest of the putative genes could probably be localized on the autosomes and X chromosome. Among the familial presentation, there were identified CGDs due to mutations of following genes: DHH [7,24], FTHL17 [20], STARD8 [15], SOX9 [9,16], MAP3K1 [17], NR5A1 [36]. Because of differences in location in the genome, various patterns of inheritance can be taken into account, such as autosomal dominant pattern (NR5A1/SF1, DHH-heterozygote, WNT4 duplication, WT1, SOX9), autosomal recessive (DHH [7,24], SF1/NR5A1 [36]), and, in the case of sexual chromosomes, the X-linked genes (NR0B1/DAX1; ATRX, ARX, FTHL17) [2,20].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

A Risk of Gonadoblastoma in Familial Swyer Syndrome—A Case Report and Literature Review

Rudnicka,

Jaroń,

Kruszewska

et al. 2024

JCM

View full text Add to dashboard Cite

A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea. Moreover, intrabdominal dysgenetic gonads in the patient with genetic material of a Y chromosome may conduce to the development of gonadal tumors, such as gonadoblastoma or germinoma. The management of such patients is based on preventive excision of dysgenetic gonads and long-term hormonal replacement therapy. Sporadic cases are considered more common than familial cases. This paper presents two siblings with Swyer syndrome in whom gonadoblastoma was found. A thorough review of familial CGD with 46,XY DSD in the literature from the last 15 years suggests that the risk of gonadal tumors could be increased in familial compared to sporadic cases (66.6% vs. 15–45%, respectively).

show abstract