Polymorphisms of < b > < i > MAMLD1, SRD5A2, < /i > < /b > and < b > < i > AR < /i > < /b > Candidate Genes in Seven Dogs (78,XY; < b > < i > SRY < /i > < /b > -Positive) Affected by Hypospadias or Cryptorchidism
In this study, we analyzed the entire coding sequence of these genes in 7 dogs (78,XY) with ambiguous external genitalia (hypospadias, cryptorchidism, bifid scrotum, or rudimentary penis). The most common disorder was hypospadias (6 cases), followed by cryptorchidism (4 cases). The co-occurrence of both abnormalities was observed in 3 dogs. Polymorphisms were found inMAMLD1(3 SNPs),SRD5A2 (5 SNPs), andAR (2 STRs and 1 SNP), whileSRY was monomorphic. However, the distribution of the polymorphic variants in the DSD dogs and 11 control XY dogs did not differ significantly. Our study suggests that an association between the po...
Source: Sexual Development - May 5, 2019 Category: Biology Source Type: research
Spatiotemporal Correlations between amh and cyp19a1a Transcript Expression and Apoptosis during Gonadal Sex Differentiation of Pejerrey, Odontesthes bonariensis
In this study, we investigated the spatiotemporal expression patterns ofamh, gonadal aromatase (cyp19a1a), and apoptosis in relation to the histological gradient in ovaries and testes at an intermediate, sexually neutral temperature. The location and timing of expression ofamh,cyp19a1a, and apoptosis seemed to be highly coordinated with the time of gonadal sex differentiation and the histological gradient of gonadal sex differentiation. Apoptosis occurred predominantly in the anterior region of the right gonads and is surmised to be a process to delay differentiation in this area compared to the left gonad, possibly as a m...
Source: Sexual Development - April 3, 2019 Category: Biology Source Type: research
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent M üllerian Duct Syndrome
We report on a male patient with bilateral undescended gonads, m üllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 ofAMHR2 was detected that supported the clinical diagnosis of PMDS.Sex Dev (Source: Sexual Development)
Source: Sexual Development - April 3, 2019 Category: Biology Source Type: research
A Novel Homozygous < b > < i > AMRH2 < /i > < /b > Gene Mutation in a Patient with Persistent M üllerian Duct Syndrome
We report on a male patient with bilateral undescended gonads, m üllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 ofAMHR2 was detected that supported the clinical diagnosis of PMDS.Sex Dev 2019;13:87-91 (Source: Sexual Development)
Source: Sexual Development - April 1, 2019 Category: Biology Source Type: research
Association Between Extra-Genital Congenital Anomalies and Hypospadias Outcome
Extra-genital congenital anomalies are often present in cases of hypospadias, but it is unclear whether they have an association with the outcome of hypospadias surgery. The aim of this study was to review all hypospadias cases that had surgery between 2009 and 2015 at a single centre and identify clinical determinants of the surgical outcome. An extra-genital congenital anomaly was reported in 139 (22%) boys and 62 (10%) had more than 1 anomaly. Of the 626 boys, 54 (9%), including 44 with proximal hypospadias, had endocrine as well as limited genetic evaluation. Of these, 10 (19%) had a biochemical evidence of hypogonadis...
Source: Sexual Development - March 31, 2019 Category: Biology Source Type: research
Spatiotemporal Correlations between < b > < i > amh < /i > < /b > and < b > < i > cyp19a1a < /i > < /b > Transcript Expression and Apoptosis during Gonadal Sex Differentiation of Pejerrey, < b > < i > Odontesthes bonariensis < /i > < /b >
In this study, we investigated the spatiotemporal expression patterns ofamh, gonadal aromatase (cyp19a1a), and apoptosis in relation to the histological gradient in ovaries and testes at an intermediate, sexually neutral temperature. The location and timing of expression ofamh,cyp19a1a, and apoptosis seemed to be highly coordinated with the time of gonadal sex differentiation and the histological gradient of gonadal sex differentiation. Apoptosis occurred predominantly in the anterior region of the right gonads and is surmised to be a process to delay differentiation in this area compared to the left gonad, possibly as a m...
Source: Sexual Development - March 31, 2019 Category: Biology Source Type: research
Sertoli Cell Number Correlates with Serum Inhibin B in Infant Cryptorchid Boys
Postnatal maturation of Sertoli cells is crucial for male fertility. The aim of this study was to assess the association between the Sertoli cell number per tubule cross-section (SC/T), the serum level of the Sertoli cell-produced inhibin B, and the A-dark spermatogonia number per tubule (Ad/T) in cryptorchid boys. Forty infant cryptorchid boys aged 4-35 months (median: 13 months) were included in the study. During orchiopexy, blood samples for serum inhibin B, luteinizing hormone (LH), and follicle stimulating hormone (FSH) and testicular biopsies were obtained. Histological sections were evaluated by quantitative immunoh...
Source: Sexual Development - March 21, 2019 Category: Biology Source Type: research
Paternity in 5 α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review
In conclusion, the possibility of fatherhood is a main indication for male sex assignment in patients with 5α-reductase-2 defic iency.Sex Dev (Source: Sexual Development)
Source: Sexual Development - March 21, 2019 Category: Biology Source Type: research
A 47,XXY Pregnant Woman without the SRY Gene
Individuals with a 47,XXY karyotype usually present with a male phenotype due to the additional Y chromosome. In this paper, we describe a 47,XXY female who was pregnant with a fetus of the same karyotype based on chromosome analysis of amniotic fluid cells. Further analysis of her Y chromosome indicated that the additional Y chromosome contains noSRYgene on the short arm but carries the azoospermia factor region on the long arm, including azoospermia factor a, b and c (AZFa, AZFb, AZFc). This region may influence her female phenotype. Fertile females with a 47,XXY karyotype and loss ofSRY are extremely rare. This paper is...
Source: Sexual Development - February 22, 2019 Category: Biology Source Type: research
A 47,XXY Pregnant Woman without the < b > < i > SRY < /i > < /b > Gene
Individuals with a 47,XXY karyotype usually present with a male phenotype due to the additional Y chromosome. In this paper, we describe a 47,XXY female who was pregnant with a fetus of the same karyotype based on chromosome analysis of amniotic fluid cells. Further analysis of her Y chromosome indicated that the additional Y chromosome contains noSRYgene on the short arm but carries the azoospermia factor region on the long arm, including azoospermia factor a, b and c (AZFa, AZFb, AZFc). This region may influence her female phenotype. Fertile females with a 47,XXY karyotype and loss ofSRY are extremely rare. This paper is...
Source: Sexual Development - February 21, 2019 Category: Biology Source Type: research
Sequence Variants in TBX6 Are Associated with Disorders of the M üllerian Ducts: An Update
M üllerian anomalies comprise the Mayer-Rokitansky-Küster-Hauser syndrome as well as fusion defects of the müllerian ducts. Recurrent micro-aberrations like deletions in 16p11.2 encompassingTBX6 were found to be causative in these patients.TBX6 encodes a transcription factor which plays a role in paraxial mesoderm differentiation/specification. In previous studies, we and other groups found possibly pathogenic variants inTBX6 in patients with m üllerian anomalies. Since we suggestedTBX6 as a strong candidate, we performed sequential analysis of theTBX6gene in additional 125 patients with m üllerian anomalies, and 2 po...
Source: Sexual Development - February 12, 2019 Category: Biology Source Type: research
A Follow-Up from Infancy to Puberty in a Japanese Male with < b > < i > SRY < /i > < /b > -Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in < b > < i > NR5A1 < /i > < /b >
We report the clinical course from infancy to puberty in a Japanese male withSRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation inNR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD.Sex Dev (Source: Sexual Development)
Source: Sexual Development - February 8, 2019 Category: Biology Source Type: research
Sequence Variants in < b > < i > TBX6 < /i > < /b > Are Associated with Disorders of the M üllerian Ducts: An Update
M üllerian anomalies comprise the Mayer-Rokitansky-Küster-Hauser syndrome as well as fusion defects of the müllerian ducts. Recurrent micro-aberrations like deletions in 16p11.2 encompassingTBX6 were found to be causative in these patients.TBX6 encodes a transcription factor which plays a role in paraxial mesoderm differentiation/specification. In previous studies, we and other groups found possibly pathogenic variants inTBX6 in patients with m üllerian anomalies. Since we suggestedTBX6 as a strong candidate, we performed sequential analysis of theTBX6gene in additional 125 patients with m üllerian anomalies, and 2 po...
Source: Sexual Development - February 8, 2019 Category: Biology Source Type: research
Is Hormonal Treatment of Congenital Undescended Testes Justified A Debate
Abnormal germ cell development in cryptorchidism is not a result of a congenital dysgenesis but is preceded by a hormone imbalance and perturbation in germ cell-specific gene expression during abrogated mini-puberty. Adequate treatment with low doses of GnRHa enables 86% of men to achieve a normal sperm count and, most importantly, prevent development of azoospermia. GnRHa treatment induces a significant transcriptional response, including protein coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis. Furthermore, hormonal treatment to achieve epididymo-testicul...
Source: Sexual Development - January 31, 2019 Category: Biology Source Type: research
Optimal Management of Undescended Testis in Boys with Cerebral Palsy. A Debate
Cerebral palsy is a rare condition following injury of the developing brain and including nonprogressive neurological disorders, spasticity, intellectual impairment and others. Boys with cerebral palsy have a high incidence of undescended testis. Although the motives for treatment (infertility, cancer prevention, psychological aspects, testicular torsion) are not different in boys without neurological impairment, the decision-making process in boys with cerebral palsy is very difficult. Besides medical and surgical arguments the discussion involves challenging ethical issues.Sex Dev (Source: Sexual Development)
Source: Sexual Development - January 31, 2019 Category: Biology Source Type: research
