Related Experiment Video

Updated: Jul 12, 2025

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Published on: September 7, 2021

Early Diagnosis of 46,XX Testicular Difference of Sexual Development: Unusual Presentation with Increased Nuchal

Miguel Saraiva¹, Vera M F Santos², Lina Ramos²

¹Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de Santo António, Porto, Portugal.

Fetal and Pediatric Pathology

|October 30, 2023

Abstract

Introduction:

46,XX testicular disorder of sexual development (DSD) may present prenatally as a mismatch between phenotype and karyotype. Enlarged nuchal translucency is an abnormal sign of many disorders. We present a first trimester fetus with increased nuchal translucency that was later determined to be a 46,XX testicular DSD.

Case Presentation:

A first-trimester pregnancy ultrasound revealed enlarged nuchal translucency. Chorionic villous sampling documented a 46,XX karyotype. Subsequent ultrasounds identified male external genitalia. FISH analysis documented a SRY gene translocation. At birth, the infant had normal male internal and external genitalia.

Conclusions:

46,XX testicular DSD may present in the first trimester with an enlarged nuchal translucency.

Keywords:

46,XX testicular DSD enlarged nuchal translucency hypergonadotropic hypogonadism prenatal diagnosis

More Related Videos

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Published on: April 7, 2023

Related Concept Videos

Development of the Sexual Organs in the Embryo and Fetus

Development of the Sexual Organs in the Embryo and Fetus

Development of the reproductive organs in an embryo starts from a bipotential state. This means the early embryo can develop either male or female reproductive organs. The formation of these organs begins with the growth of gonadal ridges that arise from the intermediate mesoderm during the fifth week of development.
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...

Karyotyping

Karyotyping

The Y Chromosome Determines Maleness

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....

Nondisjunction

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...

Meiosis vs. Mitosis

Meiosis vs. Mitosis

Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...

Testes: Gross Anatomy

Testes: Gross Anatomy

The testes, also known as testicles, are the male gonads. They are housed within the scrotum, a sac-like structure located beneath the penis. The scrotum's primary role is to regulate the temperature of the testes, which is crucial for sperm production.
Each testis is surrounded by the tunica albuginea, a dense connective tissue layer that provides structural support and protection. This layer is covered by an outer serous membrane called the tunica vaginalis, which helps reduce friction...

Articles linked to this work by shared authors, journal, and citation graph.

Gonadotropin-releasing hormone receptor mutation as a cause of pubertal delay.

BMJ case reports·2026

Ketoacidosis in new-onset type 1 diabetes: return to pre-COVID-19 pandemic reality?

Pediatric endocrinology, diabetes, and metabolism·2026

Early GH therapy and neurodevelopmental outcome in a child with compound heterozygous IGF1R variants.

JCEM case reports·2026

Two Distinct Endocrine Conditions in a Single Pediatric Patient: Congenital Adrenal Hyperplasia and Type 1 Diabetes Mellitus.

Cureus·2026

Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review.

Bone·2026

Late-Onset NR0B1-Related Adrenal Hypoplasia Congenita Presenting With Primary Adrenal Insufficiency and Pubertal Delay.

Cureus·2026

See all related articles