DHX37 gene heterozygous variant—a frequent cause of embryonic testicular regression syndrome / 中华内分泌代谢杂志

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.

Comb, cloaca and feet scores and testis morphometry in male broiler breeders at two different ages / Escores de crista, cloaca e de pé e morfometria testicular em galos de matriz pesada em duas diferentes idades

In broiler breeder roosters, the weight of the testes is positively associated with daily sperm production and fertility. In birds, the testes are located in the coelomic cavity, not being accessible to reproductive evaluation as mammalian testes. The reproductive evaluation of roosters is based on phenotypic traits. Any changes on testes will be reflected on fertility levels. The aim of this paper was to evaluate the potential of association of phenotypic traits as body weight (BW), comb scores (COS), cloaca scores (CLS) and feet scores (FS) with testicular morphometric parameters in adult Cobb® Mx roosters in two ages (25 and 45 weeks of age). The low BW roosters had lower testes weight (TW), smaller seminiferous tubule diameter (STD) and lower comb and cloaca scores than the medium and high BW roosters (P≤0.05). Heavy roosters had the highest COS and bigger seminiferous epithelium height (SEH). There was no statistical difference between the BW categories in FS and volumetric proportion of seminiferous tubule (ST) and interstitial tissue (IT). Considering the age effect, roosters with 45 weeks of age had lower TW and ST than 25-week roosters. Positive, moderate and significant correlation was found between testes weight and phenotypic characteristics as BW, COS and CLS in 45week roosters. A positive, moderate and significant correlation was found between body weight and histologic testicular characteristics as STD and SHE in both evaluated ages. In conclusion, there is a regression in the testes weight with age and it is more intense in Cobb® Mx roosters with lower BW. Furthermore, it is concluded that the BW positively influences the testes weight and histological quality of the testes. COS and CLS can be used with moderate potential prediction to identify roosters with low testes weight at 45 weeks of age.(AU)

Em galos de matriz pesada sabe-se que o peso dos testículos pode ser associado positivamente com a produção diária de espermatozoides e que alterações nos testículos irão refletir na fertilidade. Nas aves, os testículos estão localizados dentro da cavidade celomática, e, portanto, não são acessíveis para exame andrológico direto, como em mamíferos. A avaliação reprodutiva de galos se baseia principalmente em características fenotípicas. Buscou-se avaliar o potencial de associação de alguns parâmetros fenotípicos, como peso corporal (PC), escores de crista (ECR), escores de cloaca (ECL) e escores de pés (EP), com parâmetros morfológicos de testículos em galos Cobb® Mx em duas idades (25 e 45 semanas de idade). Galos leves apresentaram menor peso testicular (PT), menor diâmetro de túbulo seminífero (DT), e menores ECR e ECL que galos médios e pesados (P≤0.05). Galos pesados apresentaram os maiores ECR e maiores valores para altura do epitélio seminífero (AE), e DT. Não houve diferença estatisticamente significativa entre as categorias de peso para escores de pé e proporções de túbulo seminífero (TS) e interstício (INT). Considerando-se o efeito da idade, galos com 45 semanas de idade apresentaram menores PT e TS que galos com 25 semanas de idade. Correlação positiva, moderada e significativa foi encontrada entre peso de testículo e características fenotípicas como ECR, ECL e PC em galos de 45 semanas de idade. Foi encontrada correlação positiva, moderada e significativa entre PC e características testiculares como DT e AE nas duas idades avaliadas. Conclui-se que em galos Cobb® Mx ocorre regressão do testículo com o avanço da idade, e ela é mais intensa em galos com menor peso corporal. Conclui-se que o PC tem influência positiva no peso e índices histomorfométricos dos testículos, e que escores de crista e de cloaca podem ser utilizados com potencial moderado de predição para identificar galos com baixo peso de testículos em galos com 45 semanas de idade.(AU)

Effect of photoperiod and temperature on testicular regression in Channa punctatus.

In Channa punctatus testicular regression commonly observed during spawning and postspawing phases of reproductive cycle. In the present study, testicular regression was frequently noticed in fish maintained under both long photoperiod-warm temperature (LD 16 : 8-300C) and short photoperiod-warm temperature (LD 8 : 16-30oC) regimes. Testicular regression was characterized by distortion of cellular boundary of lobules and formation of collagenous capsules containing degenerating germ cells, blood cells and colloidal mass within the lobules. The magnitude of testicular regression was more in fish exposed to short photoperiod regime (R-73.33%, SP-41.67%) than long photoperiod regime (R-50.83%, SP-19.16%) and control group (R-20.83%, SP-16.67%) in both resting (R) and spawning (SP) phases. Further, the frequency of testicular regression during resting phase was 73.33% (short photoperiod), 50.83% (long photoperiod) and 20.83% (control) whereas during spawning phase was 41.67% (short photoperiod) 19.16% (long photoperiod) and 16.67% (control). In the present study, occurrence of more testicular regression during resting phase than spawning phase may be due to change in the endogenous condition of the fish.

A Case of Early Fetal Testicular Regression Syndrome / 대한산부인과학회지

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.

A Case of Early Fetal Testicular Regression Syndrome / 대한산부인과학회잡지

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.

A Case of Testicular Regression Syndrome / 대한소아내분비학회지

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.