Normal External Genitalia: Causes & Reasons

Possible Causes for Normal External Genitalia

It is characterized by the failure of the uterus and the vagina to develop properly in women who have normal ovarian function and normal external genitalia. [miklosandmoore.com]

[…] as breasts and pubic hair Normal external genitalia Normal chromosomal patterns seen on karyotyping Functioning ovaries with normal levels of estrogen Reduced vaginal depth [news-medical.net]

This syndrome is characterized by normal functioning ovaries, normal external genitalia but vaginal aplasia (2–7 cm deep), and an absent cervix or rudimentary uterus. [egms.de]

Agenesis of Uterus

Since patients with vaginal agenesis have normal external genitalia, she should be able to experience normal orgasmic function. What causes vaginal agenesis? [childrenshospital.org]

Her exam reveals normal female external genitalia and normal breast and pubic hair development. [medbullets.com]

genitalia are normal. [mjdrdypu.org]

Frasier Syndrome

Since the great majority of FS patients have normal female external genitalia, sex reversal is not suspected before they present delayed puberty and/or primary amenorrhea. [ncbi.nlm.nih.gov]

Patients present with normal female external genitalia, streak gonads and XY karyotype and frequently develop gonadoblastoma. [ncbi.nlm.nih.gov]

Leydig Cell Hypoplasia due to LHB Deficiency

Genetic females with these mutations have normal female external genitalia and normal female development during puberty, but may have amenorrhea (absent periods) and infertility [rarediseases.info.nih.gov]

genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. [ncbi.nlm.nih.gov]

[…] isolated LH deficiency (HH23; {228300}) are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor: all have female external [diseaseinfosearch.org]

Isolated Partial Vaginal Agenesis

Since patients with vaginal agenesis have normal external genitalia, she should be able to experience normal orgasmic function. What causes vaginal agenesis? [childrenshospital.org]

[…] development of secondary sexual characteristics and normal external genitalia. [orpha.net]

Accounts for most cases of absence of vagina with normal external genitalia. [patient.info]

Nivelon-Nivelon-Mabille Syndrome

external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia [orpha.net]

[…] diseases Search Search for a rare disease Disease definition A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal [orpha.net]

The first sibling had normal female internal and external genitalia, whereas the karyotype was 46,XY. [accessanesthesiology.mhmedical.com]

Agenesis or Aplasia of Uterine Body

[…] development of secondary sexual characteristics and normal external genitalia. [orpha.net]

Her exam reveals normal female external genitalia and normal breast and pubic hair development. [medbullets.com]

Accounts for most cases of absence of vagina with normal external genitalia. [patient.info]

Leydig Cell Hypoplasia

Oman Bhat and Hamdi (2005) reported a 20-year old married female with normal external genitalia, under developed breasts and normal hair distribution, who presented with primary [cags.org.ae]

Leydig cell hypoplasia is a rare autosomal recessive condition that interferes with normal development of male external genitalia in 46,XY individuals. [ncbi.nlm.nih.gov]

46,XY Disorder of Sex Development

Individuals with 46,XY CGD (also known as 46,XY sex reversal) have a 46,XY karyotype in conjunction with normal female external genitalia, “streak” gonads, absent sperm production [dnatesting.uchicago.edu]

LH, Increase estrogen. • Phenotype; normal male external genitalia Not ambiguous 21. • Special features • Complications 1. [slideshare.net]

Male Pseudohermaphrodite Undermasculinized Male ( 46,XY DSD) 5.Persistent Müllerian Duct Syndrome (hernia uteri inguinale). • 46,XY • normal male external genitalia • internal [slideshare.net]

46,XX Ovotesticular Disorder of Sex Development

LH, Increase estrogen. • Phenotype; normal male external genitalia Not ambiguous 21. • Special features • Complications 1. [slideshare.net]

Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal [orpha.net]

Genetic disorderprotein biosynthesis: Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development [wwwowww.me]

Uterine Cervical Aplasia and Agenesis

The perineal examination showed normal external genitalia and normally placed urethral opening but the normal vaginal opening was absent. [ijri.org]

On physical examination, the patient had normal external female genitalia, a normal cervix, and a retroverted uterus. [file.scirp.org]

They also have normal female external genitalia and normal breast and pubic hair development, thus showing normal development of secondary sexual characteristics. [ijogr.com]

Complete Androgen Insensitivity Syndrome

The physical examination revealed normal female external genitalia, normal breast development, sparse pubic hair and absence of axillary hair. [ncbi.nlm.nih.gov]

PATIENT(S): 105 patients with normal female external genitalia, bilateral intra-abdominal or inguinal testis, normal breast development, absent or sparse pubic hair, normal [ncbi.nlm.nih.gov]

A 22-year-old woman with complete androgen insensitivity syndrome (CAIS) presenting with primary amenorrhea and normal female external genitalia was referred for laparoscopic [ncbi.nlm.nih.gov]

Gonadal Dysgenesis

Such mosaics are also compatible with female phenotype and Turner syndrome, ovotesticular disorder of sex development, and infertility in men with normal external genitalia [ncbi.nlm.nih.gov]

On physical exam, the patient presented normal female phenotype, female external genitalia, with Tanner stage 1. [actapediatrica.com]

All cases had normal female external genitalia at birth and eluded the diagnosis of gonadal dysgenesis until later in life. [ncbi.nlm.nih.gov]

Androgen Insensitivity Syndrome

In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in reifenstein syndrome, to [icd9data.com]

[…] of phenotypes ranging from male infertility to completely normal female external genitalia. [ncbi.nlm.nih.gov]

[…] female external genitalia. [ncbi.nlm.nih.gov]

Vaginal Atresia

[…] ovaries and normal external genitalia. [wikidoc.org]

Perineal examination may reveal normal external genitalia with the appropriate development of secondary sex characteristics in the adolescent. [emedicine.staging.medscape.com]

Accounts for most cases of absence of vagina with normal external genitalia. [patient.info]

Gonadoblastoma

Physical examination revealed short stature (−2.1 SDS), Tanner stage I breast development, normal female external genitalia phenotype. [abstracts.eurospe.org]

She was a 18-year-old female with 46, XY karyotype and poor secondary sexual character and normal external genitalia. She suffered of abdominal pain. [tumj.tums.ac.ir]

RESULTS: In patients who underwent bilateral gonadectomy, gonadoblastomas were detected in 36.4% (4 of 11), and all were identified in patients with normal female external [ncbi.nlm.nih.gov]

Female with more than three X Chromosomes

“Patients can be misdiagnosed as having Down’s syndrome, so that the correct diagnosis requires cytogenetic analysis” The normal external genitalia seen in our patient have [doi.org]

She also had oblique eye fissures, upward ears, thenar atrophy and normal external genitalia. [ncbi.nlm.nih.gov]

external genitalia, clinodactyly of the fifth finger, small hands and feet, and congenital heart disease. [doi.org]

46,XX Ovarian Dysgenesis-Short Stature Syndrome

The boy had normal male phenotype and normal male external genitalia, marked pubic hair (Tanner stage V) and enlarged testes with testicular volume 15ml bilaterally, with [hormones.gr]

[…] testes and external genitalia but 10% have hypospadias 45, XO: T u rner ’ s Oocytes degenerate leaving streak gonads at birth 46, XX: pure gonadal dysgenesis Similar to T [oneclass.com]

They also have normal female external genitalia and normal breast and pubic hair development.10 Although women with this condition are usually unable to carry a pregnancy, [soc.ucsb.edu]

Anorchia

However, if the testes are lost after the critical phase of male differentiation between 12 and 14 weeks, the baby will have normal male internal and external genitalia (penis [health.am]

The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed [diseaseinfosearch.org]

[…] of external genitalia. [symptoma.com]

Female Infertility due to Anovulation

Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal [orpha.net]

The internal and external genitalia are normally developed. [orpha.net]

The patients may appear phenotypically normal or have hypoplastic external genitalia. [humpath.com]

Denys-Drash Syndrome

Female: gonadal dysgenesis with ambiguous genitalia; sometimes can present normal external genitalia; higher risk to develop gonadoblastoma (Koziell et al. 1999; Öçal G 2011 [atlasgeneticsoncology.org]

The patients were accompanied with normal external genitalia, early onset renal failure between 6 and 12 months of age, and unilateral Wilms' tumor. [ncbi.nlm.nih.gov]

external genitalia. [ncbi.nlm.nih.gov]

45,X/46,XY Mixed Gonadal Dysgenesis

RESULTS: In patients who underwent bilateral gonadectomy, gonadoblastomas were detected in 36.4% (4 of 11), and all were identified in patients with normal female external [ncbi.nlm.nih.gov]

Both of these boys presented at the age of 15 years with short stature, minor Turner-like stigmata, normal male external genitalia and spontaneous pubertal development. [ncbi.nlm.nih.gov]

His physical examination was normal. The external genitalia comprised of proximal penile hypospadia. Dorsal hood and chordee were present. [ijpmonline.org]

Ovarian Dysgenesis

Numerous sex-chromosome anomalies have been detected in cases of primary amenorrhea with normal external genitalia. [nejm.org]

Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal [orpha.net]

It affects 1 in 4500 women, and the usual clinical presentation is primary amenorrhea in a young woman with normal external genitalia and functional ovaries. [jhrsonline.org]

Ovotesticular Disorder of Sex Development

We report the case of an adolescent boy with true hermaphroditism who presented with normal external genitalia and no sexual ambiguity. [ncbi.nlm.nih.gov]

A 15-year-old boy with normal external genitalia presented with severe bilateral gynecomastia, intermittent painful scrotal swelling, and a recent history of scrotal trauma [ncbi.nlm.nih.gov]

The external genitalia are normal and feminine, but the internal genitalia are incompletely developed with atrophied ovaries. [embryology.ch]

Ambiguous Genitalia

We report the case of an adolescent boy with true hermaphroditism who presented with normal external genitalia and no sexual ambiguity. [ncbi.nlm.nih.gov]

Both had normal female external genitalia and a 46,XX karyotype. [ncbi.nlm.nih.gov]

[…] female external genitalia. [chop.edu]

Male Pseudohermaphroditism

An 11-year-old patient with male pseudohermaphroditism presented with essentially normal-appearing female external genitalia. [ncbi.nlm.nih.gov]

The external genitalia are normal and feminine, but the internal genitalia are incompletely developed with atrophied ovaries. [embryology.ch]

normally. [geocities.ws]

Tetragametic Chimerism

The pregnancy resulted in a healthy baby girl at term with normal female external genitalia. [doi.org]

Phenotypic expression is highly variable for sex-chromosome discordant chimeras and may range from normal to ambiguous external genitalia. [bmcmedgenet.biomedcentral.com]

The infant was born with male genitalia that were normal in external appearance. A testosterone level and pelvic ultrasound were also normal. [jmg.bmj.com]

Diphallia

Partial bifid diphallia without associated anomalies[edit] A 15-year-old boy,[14] apart from having two penises, had normal external genitalia. [en.wikipedia.org]

He had a single normal bladder and ureter. [en.wikipedia.org]

His two testicles were within normal scrotum and normally positioned. [en.wikipedia.org]

Uterus Didelphus

[Journal Article] Int J Surg Case Rep 2019; 63:129-134Girardi Fachin C, Aleixes Sampaio Rocha JL, … Dos Santos Dias AIBIJ CONCLUSIONS: With normal external genitalia, HWWS [unboundmedicine.com]

External genital inspection showed normal external genitalia with torn hymen. [mamcjms.in]

In this case, one vaginal opening is usually blocked and the external appearance of the genitalia is normal. [medicinenet.com]

Mayer-Rokitansky-Küster-Hauser Syndrome Type 1

The prime feature is a primary amenorrhea in women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia. [hal.inserm.fr]

Affected females also have normal external genitalia and sexual characteristics but other defects may be present such as underdeveloped kidneys, skeletal abnormalities and [news-medical.net]