journal
MENU ▼
Read by QxMD icon Read
search

Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation

journal
https://read.qxmd.com/read/30933950/a-novel-homozygous-amrh2-gene-mutation-in-a-patient-with-persistent-m%C3%A3-llerian-duct-syndrome
#1
Mónica Fernández-Cancio, Naveen Viswanath, Ramakrishnan Puzhankara, Praveen Valiyaprambil Pavithran, Cristina Mora-Palma, Núria Camats, Laura Audí, Sara Benito-Sanz
Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. Homozygous or compound heterozygous alterations in AMH or AMHR2 have been identified in approximately 88% of PMDS cases. We report on a male patient with bilateral undescended gonads, müllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 of AMHR2 was detected that supported the clinical diagnosis of PMDS...
April 2, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30913555/spatiotemporal-correlations-between-amh-and-cyp19a1a-transcript-expression-and-apoptosis-during-gonadal-sex-differentiation-of-pejerrey-odontesthes-bonariensis
#2
Munti Sarida, Ricardo S Hattori, Yan Zhang, Yoji Yamamoto, Carlos A Strüssmann
Sex determination in pejerrey is genetically prescribed by the Y chromosome-linked anti-müllerian hormone amhy but is also strongly influenced by water temperature during the critical period of sex determination. Its gonadal differentiation is characterized by a cephalocaudal and left-to-right histological gradient in both sexes that presumably helps prevent discrepant intersex development in different regions of the gonads in response to ambiguous thermal and genetic stimuli, but the relation of this gradient to molecular processes of sex differentiation is unknown...
March 27, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30913557/association-between-extra-genital-congenital-anomalies-and-hypospadias-outcome
#3
Fahad Al-Juraibah, Angela Lucas-Herald, Rachael Nixon, Christine Toka, Cunyi Wang, Martyn Flett, Stuart O''Toole, S Faisal Ahmed
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...
March 26, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30889614/sertoli-cell-number-correlates-with-serum-inhibin-b-in-infant-cryptorchid-boys
#4
Simone Hildorf, Lihua Dong, Jorgen Thorup, Erik Clasen-Linde, Claus Yding Andersen, Dina Cortes
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...
March 20, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30889611/paternity-in-5%C3%AE-reductase-2-deficiency-report-of-two-brothers-with-spontaneous-or-assisted-fertility-and-literature-review
#5
Silvano Bertelloni, Fulvia Baldinotti, Giampiero I Baroncelli, Maria A Caligo, Diego Peroni
Fertility remains a challenge for men with 5α-reductase-2 deficiency. Such a diagnosis was made in 2 adult brothers who are compound heterozygous for the 5α-reductase type 2 gene (SRD5A2; c.308G>C; c.689A>C). They were born with ambiguous genitalia and the male sex was assigned. Both brothers underwent reconstructive genital surgery during pediatric age and had spontaneous virilization at puberty. The older brother experienced natural conception, while the younger had a son by assisted reproductive technology...
March 20, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30799415/a-47-xxy-pregnant-woman-without-the-sry-gene
#6
Liqin Hu, Ping Liu, Li Ma, Xiaoqin Xin, Junkun Chen, Qing Xie, Fuyu Luo, Xinxing Xie, Jungao Huang
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 no SRY gene 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...
February 16, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30739119/sequence-variants-in-tbx6-are-associated-with-disorders-of-the-m%C3%A3-llerian-ducts-an-update
#7
Ann-Christin Tewes, Jürgen Hucke, Thomas Römer, Karina Kapczuk, Cordula Schippert, Peter Hillemanns, Peter Wieacker, Susanne Ledig
Müllerian 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 encompassing TBX6 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 in TBX6 in patients with müllerian anomalies. Since we suggested TBX6 as a strong candidate, we performed sequential analysis of the TBX6 gene in additional 125 patients with müllerian anomalies, and 2 possibly pathogenic missense variants and 1 nonsense substitution in TBX6 in 4/125 patients were found...
February 9, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30739115/a-follow-up-from-infancy-to-puberty-in-a-japanese-male-with-sry-negative-46-xx-testicular-disorder-of-sex-development-carrying-a-p-arg92trp-mutation-in-nr5a1
#8
Akiko Saito-Hakoda, Junko Kanno, Dai Suzuki, Sayaka Kawashima, Miki Kamimura, Koji Hirano, Kiyohide Sakai, Maki Igarashi, Maki Fukami, Ikuma Fujiwara
SRY-negative 46,XX testicular disorders of sex development (DSD) are very rare conditions. Recently, we identified a novel heterozygous NR5A1 mutation, p.Arg92Trp (c.274C>T, p.R92W), in 2 unrelated cases of 46,XX testicular/ovotesticular DSD. We report the clinical course from infancy to puberty in a Japanese male with SRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation in NR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed...
February 9, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30703771/optimal-management-of-undescended-testis-in-boys-with-cerebral-palsy-a-debate
#9
Alexander Springer
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...
February 1, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30721907/is-hormonal-treatment-of-congenital-undescended-testes-justified-a-debate
#10
Faruk Hadziselimovic
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...
January 26, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30685766/surgical-management-of-undescended-testis-timetable-and-outcome-a-debate
#11
Jorgen Thorup, Dina Cortes
Around 1.4-3.8% of boys in the Western world are operated because of cryptorchidism. This means that orchidopexy remains one of the most common surgical procedures performed in boys. As a consequence, several consensus reports, guidelines, and reviews dealing with the management of cryptorchidism have been published recently. Based on our research and 30 years' experience with the management of cryptorchidism, the intention of the present publication is to advise on the surgical management and comment on the expected outcome, especially with focus on the controversies related to guidelines and reviews...
January 26, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30665227/management-of-undescended-testis-a-debate
#12
Silvano Bertelloni, Lutz Wünsch
No abstract text is available yet for this article.
January 22, 2019: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30580331/molecular-sexing-of-the-white-winged-guan-penelope-albipennis-and-other-wild-birds-of-the-north-of-peru
#13
César Francisco Díaz Casana, Dan Erick Vivas Ruíz, Gustavo Adolfo Sandoval Peña, Pedro Jorge Chimoy Effio
The use of accurate and reliable techniques for sex determination of wild birds is of special importance in captive breeding programs, especially in birds with monogamous, aggressive behavior, with absence of copulation, and with a low hatching rate. Using PCR, we evaluated the relative efficacy of primers HPF/HPR and CHD1Wr/NP/CHD1Zr in the amplification of the chromo-helicase-DNA binding 1 (CHD1) gene for sex determination in Penelope albipennis and 8 other species of cracids, 4 species of falconids, 4 species of accipitrids, and 3 species of psittacines...
December 21, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30504706/a-rare-mosaic-karyotype-of-45-x-46-x-psu-idic-y-p11-32-46-xy-with-shox-haploinsufficiency-external-male-genitalia-and-short-stature
#14
Cemal Ekici, Zeynep Esener, Selcen Korkmaz, Nihal Saltürk, Sengul Yüksel, Ahmet Koç
In this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45,X[20]/46,X,idic(Y)(p11.32)[29]/46,XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (SRY), centromere X/Y (CEP X/Y), and short stature homeobox (SHOX) genes...
December 1, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30504698/identification-of-candidate-genes-for-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-using-genomic-approaches
#15
Brendan Backhouse, Chloe Hanna, Gorjana Robevska, Jocelyn van den Bergen, Emanuele Pelosi, Cas Simons, Peter Koopman, A Zulfa Juniarto, Sonia Grover, Sultana Faradz, Andrew Sinclair, Katie Ayers, Tiong Y Tan
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder of sex development which affects 1 in 4,500 females and is characterized by agenesis of müllerian structures, including the uterus, cervix, and upper vagina. It can occur in isolation (type 1) or in conjunction with various anomalies (type 2), with a subset of these comprising müllerian, renal, and cervicothoracic abnormalities (MURCS) association. The genetic causes of MRKH have been investigated previously yielding limited results, with massive parallel sequencing becoming increasingly utilized...
December 1, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30497074/contents-vol-12-2018
#16
(no author information available yet)
No abstract text is available yet for this article.
November 27, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30376669/michael-schmid-1948-2018-a-life-devoted-to-science
#17
Holger Höhn
No abstract text is available yet for this article.
October 31, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30372699/a-search-for-disorders-of-sex-development-among-infertile-men
#18
Rafael S Yabiku, Mara S Guaragna, Lizandra M de Sousa, Helena Fabbri-Scallet, Taís N Mazzola, Cristiane S C Piveta, Marcela L de Souza, Gil Guerra-Júnior, Maricilda P de Mello, Andréa T Maciel-Guerra
A retrospective cross-sectional study was performed in a DSD clinic at a tertiary service (University Hospital) to estimate the frequency of disorders of sex development (DSD) among men who seek medical care because of infertility. The sample included 84 men >20 years of age referred from 2010-2017 due to oligozoospermia or nonobstructive azoospermia of unknown etiology. Twelve cases (14%) were diagnosed as DSD, including Klinefelter Syndrome, 46,XX testicular DSD, and mild androgen insensitivity syndrome...
October 30, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30278451/thermal-response-of-epigenetic-genes-informs-turtle-sex-determination-with-and-without-sex-chromosomes
#19
Srihari Radhakrishnan, Robert Literman, Jennifer L Neuwald, Nicole Valenzuela
Vertebrate sexual fate can be established by environmental cues (e.g., temperature-dependent sex determination, TSD) or by genetic content (genotypic sex determination, GSD). While methylation is implicated in TSD, the influence of broader epigenetic processes in sexual development remains obscure. Here, we investigated for the first time the embryonic gonadal expression of the genome-wide epigenetic machinery in turtles, including genes and noncoding RNAs (ncRNAs) involved in DNA/histone acetylation, methylation, ubiquitination, phosphorylation, and RNAi...
October 3, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/30227435/conservation-of-ovary-specific-genes-foxl2-aromatase-and-rspo1-in-the-common-indian-garden-lizard-calotes-versicolor-that-lacks-chromosomal-or-temperature-dependent-sex-determination
#20
Priyanka, Vidisha Tripathi, Rajiva Raman
Foxl2,Rspo1, and Aromatase are genes important in the ovary developmental pathway in mammals and birds. Here, we show their presence in the lizard, Calotes versicolor, which is known to lack a chromosomal as well as a temperature-dependent mode of sex determination and has an indeterminate, bipotential gonad throughout embryonic development. The expression of the 3 genes, as well as that of CvSox9 and Wnt4 - the known testis and ovary pathway genes - was studied by RT-PCR and whole tissue RNA in situ hybridization (WRISH) on the developing mesonephros gonadal complex (MGC)...
September 15, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
journal
journal
41749
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"