ABSTRACT
Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.
ABSTRACT
A 29-year-old phenotypic female with 46,XY genotype presented with primary amenorrhea, no breast development, no axillary hair, no pubic hair, and clitomegaly. The vagina was blind pouch. The vagina and urethra shared same outlet. Plasma follicle-stimulating hormone (FSH) was in the normal range for female subject. Plasma luteinizing-hormone (LH) and testosterone were elevated. Plasma estradiol (E2) level was markedly low. At laparoscopy, no uterus, only vestigial remnants of fallopian tube was seen and very small streak gonad was found. According to the pathologic report, they were remnant of Mullerian duct and salpinx ("right adnexa") and streak gonad with vas deference ("left adnexa"). On the basis of the clinical, genotypic, and endocrine feature, the patient was diagnosed as testicular regression syndrome. We present it with brief review of literature.
Subject(s)
Adult , Female , Humans , Amenorrhea , Breast , Estradiol , Fallopian Tubes , Follicle Stimulating Hormone , Genotype , Gonads , Hair , Laparoscopy , Plasma , Reference Values , Testosterone , Urethra , Uterus , VaginaABSTRACT
Testicular regression syndrome is representative of a clinical range of 46,XY agonadal persons, in which the testes of the victim's are irreparably damaged at a critical stage in fetal development. The critical stage of testicular regression syndrome is represented by a range of abnormalities of genital development. Recently, we experienced a case of early fetal testicular regression syndrome with no definite gonad and a cloacal anomaly associated with imperforate anus, so we present it with brief review of literature.
Subject(s)
Humans , Anus, Imperforate , Fetal Development , Gonads , TestisABSTRACT
Testicular regression syndrome may be better known as vanishing testis syndrome to physicians. Such individuals are genetically male(46,XY), presenting with unilateral or bilateral absence of recognizable testis structures and absence of the Mullerian duct system. There is a wide spectrum of phenotypes depending on the stage of male embryogenesis at which testicular function ceased. We experienced a case of testicular regression syndrome presenting labial fusion at birth and report with the brief review of related literature.