Search results for "DISORDERS OF SEX DEVELOPMENT"

Livebirth after uterus transplantation.

2015

Uterus transplantation is the first available treatment for absolute uterine infertility, which is caused by absence of the uterus or the presence of a non-functional uterus. Eleven human uterus transplantation attempts have been done worldwide but no livebirth has yet been reported.In 2013, a 35-year-old woman with congenital absence of the uterus (Rokitansky syndrome) underwent transplantation of the uterus in Sahlgrenska University Hospital, Gothenburg, Sweden. The uterus was donated from a living, 61-year-old, two-parous woman. In-vitro fertilisation treatment of the recipient and her partner had been done before transplantation, from which 11 embryos were cryopreserved.The recipient an…

One uterus bridging three generations: first live birth after mother-to-daughter uterus transplantation

2016

Objective To determine whether a uterus from the mother of a woman with absolute uterine factor infertility can be transplanted to daughter and carry a pregnancy with delivery of a healthy child. Design Part of an observational study. Setting University teaching hospital. Patient(s) Twenty eight-year-old woman with uterine agenesis, her male partner, and her 50-year-old mother. Intervention(s) In vitro fertilization with embryo cryopreservation before live donor uterus transplantation (UTx). Induction immunosuppression. Embryo transfer 12 months after UTx, pregnancy controls, delivery, and hysterectomy. Main Outcome Measure(s) Results of IVF-ET, parameters of pregnancy/birth, and surgical d…

Female pelvic congenital malformations. Part I: embryology, anatomy and surgical treatment.

2011

This review covers the most important female congenital pelvic malformations. The first part focuses on the embryological development of the urogenital and anorectal apparatus, morphological features, and the diagnostic and surgical approach to abnormalities. Comprehension of the embryological development of the urogenital and anorectal apparatus is essential to understand the morphology of congenital pelvic abnormalities and their surgical treatment. Congenital pelvic malformations are characterized by specific common features; the severity of which often subverts the pelvic morphology completely and makes it difficult to comprehend before surgery. The development of imaging, mainly magnet…

A national study on the physical and mental health of intersex adults in the U.S.

2020

ObjectivesTo describe the health of intersex adults (people with differences of sex development) in the U.S. using community-based research methods.MethodsIn July-September 2018, we conducted a national health study of intersex adults aged 18 and older in the U.S., using a survey hosted on Qualtrics. The study describes the physical and mental health experiences of intersex adults, including differences by age (18 to 39 vs. 40 and older). Questions were derived from national (Behavioral Risk Factor Surveillance System) and intersex-related health studies.ResultsA non-probability sample of 198 intersex adults completed the survey over three months. Over 43% of participants rated their physic…

Intersex condition and the construction of gender identity.

2015

Intersexuality is conceptualized as a disorder of sexual development (DSD), which includes congenital conditions associated with atypical chromosomal, gonadic and anatomic sexual development. DSD can be diagnosed at birth as a result of observation of ambiguous genitalia, or, in adolescence, if sexual development diverges from the assigned gender. Some DSD can only be recognized in adulthood as a consequence of reproductive difficulties. In children and adolescents with DSD, gender identity is strongly influenced by atypical sexual development. The comparison between two management models of DSD, the optimal gender policy and a holistic perspective focused on the individual, highlighted the…

Mutations of the androgen receptor gene in patients with complete androgen insensitivity.

1997

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmito…

2014

The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However, the biological impact of lipid modifications on Hh ligand distribution and signal reception in humans remains unclear. In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. This mutation…

Laboratory investigations in genetic syndromes: examples of clinical approach in the neonatal unit.

2010

Contiguous gene deletion syndromes: the importance of an accurate genetic definition for a careful clinical monitoring. Contiguous gene deletion syndromes are so named because the deletion manifests as a distinctive cluster of otherwise unrelated single-gene disorders in the same subject. An accurate genetic definition of the deleted region is extremely important for the appropriate management of these patients and for unravelling the function of the involved genes. The microarray-based comparative genomic hybridization (CGH arrays) analysis is the actual molecular method able to accurately define the bounds of a deleted region, since it allows an evaluation of DNA copy number alterations a…

17β-Hydroxysteroid dehydrogenase-3 deficiency: From pregnancy to adolescence

2009

OBJECTIVE: Aim of this study is to report on basal clinical phenotype and follow up after diagnosis, of patients with 17beta-hydroxysteroid-dehydrogenase type 3 (17beta-HSD3) deficiency in Italy. SETTING: Pediatric Endocrine Departments, University Hospitals. PATIENTS: The cases of 5 Italian subjects affected by 17beta-HSD3 deficiency are presented in this study. INTERVENTIONS: Laboratory and genetic assessment. Gonadectomy and female sex assignment (4 patients) or GnRH analog therapy to regress puberty and gender identity disorder (1 patient). RESULTS: Presentation lasted from pregnancy (pre-natal diagnosis of a 46,XY fetus with female external genitalia) to infancy (inguinal hernia contai…

Can Sex Inversion Be Environmentally Induced?

1980

Among teleosts simultaneous hermaphroditism and spontaneous sex inversion (either protogyny or protandry) occur in many families that inhabit tropical and subtropical marine waters. The tooth-carp Rivulus marmoratus is unique among these in being self-fertilizing. Most studies are descriptive work on gonad histology and reproductive behavior. Experimental investigations are scanty and do not yet provide fruitful ideas that might help to understand what is occurring in a fish when it changes sex. Behavioral observations and experiments led to the hypothesis that in certain coral reef fish sex inversion may be under social control. The term sex inversion requires closer examination in order t…