When an ovotestis is present, one third of the patients exhibit bilateral ovotestes. A testicle, when present, is more likely to exist on the right (57.4%), and an ovary, when present, is more common on the left (62%). [emedicine.medscape.com]

Clinical Presentations Clinical presentation can be variable and subtle especially for girls with the mosaic form of Turner syndrome. [learn.pediatrics.ubc.ca]

Sizemore Lippincott Williams & Wilkins, 2012 - 412 من الصفحات This pocket-sized quick-reference handbook presents evidence-based recommendations for diagnosis and treatment of endocrine disorders. [books.google.com]

[…] since no / minimal anti-Müllerian hormone is produced Usually bilateral fallopian tubes are present, occasionally vas deferens Females may exhibit clitoromegaly; no breast development except with tumors Phenotypic males may have short stature, 90 degree [pathologyoutlines.com]

We report here a case and reviewed all available literature to highlight presentations, karyotype abnormalities and gonadal abnormalities in these patients. [ijem.in]

• Short Stature

  Gonadal agenesis and short stature are the main features in the surviving infants. [icd10data.com]

  Deletion of the SHOX region on the human sex chromosomes has been shown to result in idiopathic short stature and proposed to play a role in the short stature associated with Turner syndrome [14]. [wikigenes.org]

  Short stature is diagnosed in approximately 95 % of TS patients. [touchendocrinology.com]

  We recommend that boys with otherwise unexplained short stature, being short for their families, should be karyotyped routinely as is recommended in short-stature girls. [hormones.gr]

• Coarctation of the Aorta

  Common cardiac anomalies include coarctation of the aorta and bicuspid aortic valve. Hypertension frequently occurs with aging, even without coarctation. Renal anomalies and hemangiomas are frequent. [merckmanuals.com]

  For patients who have coarctation of the aorta, cardiac surgery is required treatment. [signssymptoms.org]

  […] of the aorta). [wikilectures.eu]

  This includes bicuspid aortic valve and coarctation (narrowing) of the aorta. [en.wikipedia.org]

  Other physical findings associated with classical forms of gonadal dysgenesis include: epicanthal folds, high arched palate, low nuchal hairline, webbed neck, shield chest, coarctation of the aorta, ventricular septal defect, renal anomalies, pigmented [library.med.utah.edu]

• Virilization

  This version causes less severe virilization of a female infant than the virilization caused by 21-hydroxylase or 11-hydroxylase deficiency. [emedicine.medscape.com]

  […] of genitalia does not occur Clinical features Female external genitalia at birth, sometimes with pseudovaginal perineoscrotal hypospadias Internal urogenital organs are male In puberty, increasing synthesis of testosterone leads to virilization (phallic [amboss.com]

  In all cases, ovaries and a uterus are present, though in extreme cases of virilization there is no vagina or cervix. Virilization only occurs prenatally because after birth, the child is no longer exposed to these high levels of progestin. [soc.ucsb.edu]

  […] have short stature, 90 degree penile torsion, undescended testis, chordae without hypospadias, hypospadias or no obvious abnormalities Patients with 45X mosaicism are often considered to have a variant of Turner syndrome Phenotypic females may develop virilization [pathologyoutlines.com]

  FISH or PCR may be necessary to identify Y material because of increased risk of gonadoblastoma (7–10%) if Y material is present; indicated if signs of virilization or marker chromosome present Also may be mosaic for 45,X/46,XY, 45,X/46,XX, or 45,X/47 [unboundmedicine.com]

• Multiple Congenital Anomalies

  Oyer CE, Ramos D, Shoji T, Tantravahi U. 46, XX gonadal agenesis in a neonate with multiple congenital anomalies: Case report and review of the literature. Pediatr Pathol 1994;14:967-72. 18. Aughton DJ. [ijem.in]

• Blepharoptosis

  […] with XX gonadal dysgenesis have associated somatic features, including microcephaly, arachnodactyly, epibulbar dermoids, short stature, metabolic acidosis, blepharophimosis-ptosis-epicanthus, Malouf syndrome (dilated cardiomyopathy, mental retardation, blepharoptosis [dovepress.com]

• Long Arm

  Structural anomalies of the sex chromosome include isoXq (duplication of the long arm to form an isochromosome), rX (ring formation) and Xp-/Xq- (deletion of the short/long arm). [touchendocrinology.com]

  Such structural anomalies of the X chromosome (isochromosomes of the long arm, dicentric chromosomes, deletion of the short arm or ring chromosomes) are present in approximately 30% of the cases, in homogeneous karyotypes or in mosaics that include a [allosomes.weebly.com]

  Some affected girls have one normal X and one long-arm isochromosome formed by the loss of short arms and development of a chromosome consisting of two long arms of the X chromosome. [merckmanuals.com]

  When the centromere splits abnormally in the transverse plane, the resulting chromosome pair contains structurally identical arms with identical genes. The isochromosome for the long arm (q) is the most common X structural abnormality. [dovepress.com]

• Short Arm

  Some affected girls have one normal X and one long-arm isochromosome formed by the loss of short arms and development of a chromosome consisting of two long arms of the X chromosome. [merckmanuals.com]

  Turner syndrome should be considered in any girl with short stature. Turner syndrome refers to a collection of X chromosomal disorders resulting in a deletion or silencing of a particular set of genes on the short arm of the X chromosome. [learn.pediatrics.ubc.ca]

  Such structural anomalies of the X chromosome (isochromosomes of the long arm, dicentric chromosomes, deletion of the short arm or ring chromosomes) are present in approximately 30% of the cases, in homogeneous karyotypes or in mosaics that include a [allosomes.weebly.com]

  Diagnosis is confirmed by the presence of a 45,X cell line or a cell line with deletion of the short arm of the X chromosome (Xp deletion) (Fig. 14.5 ). [abdominalkey.com]

• Cryptorchidism

  Internal differentiation depends on the function of ipsilateral gonad Much more common in pigs than in any other domestic mammals Klinefelter ’s Syndrome 47, XXY X-inactivation Barr body 1 in 500 Most frequent cause of hypogonadism Some instances of cryptorchidism [oneclass.com]

  Incidence of malignancy is unknown compared to the usual cryptorchid testis. [emedicine.medscape.com]

  The occurrence of gonadal tumors is probably related to the hypergonadotropism existing from childhood as well as to genetic predisposition of the cryptorchid testis in the presence of a Y chromosome. [ncbi.nlm.nih.gov]

  Individuals are found to have a vagina (not a true vagina, but like a small "cupule"), bilateral cryptorchid testes but no uterus [ 4, 5 ]. [diagnosticpathology.biomedcentral.com]

Chromosome Karyotyping and serum gonadotropin determination are indicated in the workup of suspected patients. Cardiac and renal evaluation is indicated if the diagnosis of Turner's Syndrome is confirmed. [magicfoundation.org]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Treatment : How to Treat "gonadal dysgenesis"? Oestrogen supplements are typical treatments during puberty. Some cases require growth hormone replacement. For patients who have coarctation of the aorta, cardiac surgery is required treatment. [signssymptoms.org]

For the NCGS population, we conclude: Boys with MGD are taller at the time of treatment than girls with MGD, TS or TM; this may represent a sex based treatment bias, or a true biological difference. [nature.com]

Prognosis With appropriate management, the physiological and clinical outcome for patients is good. The documents contained in this web site are presented for information purposes only. [orpha.net]

A 45,X fetus identified prenatally and surviving to birth has a prognosis similar to that of a child in whom Turner's syndrome is diagnosed postnatally. [allosomes.weebly.com]

Fig. 14.9 Ultrasound of a large ovarian cyst Management and Prognosis Since most of FOC follow a benign course, they have an excellent prognosis especially if the cyst is isolated, unilateral, and unilocular. [abdominalkey.com]

In some older patients (~9 years) with very poor prognosis of final height, the addition of a low dose of oxandrolone (non-aromatisable anabolic steroid) should be considered.4 The addition of Ox to GH treatment may increase adult height by even more [touchendocrinology.com]

Etiology Ovarian dysgenesis results from genetic defects of ovarian development. [orpha.net]

Congenital adrenal hyperplasia Androgen insensitivity syndrome Etiology : X-linked recessive mutation of the gene locus encoding the androgen receptor → varying degrees of end-organ insensitivity to androgens Karyotype : 46,XY Clinical features Complete [amboss.com]

If the patient has normal pubertal development and a uterus, the most common etiology is congenital outflow tract obstruction with a transverse vaginal septum or imperforate hymen. [aafp.org]

Müllerian agenesis: Etiology, diagnosis, and management. Obstet Gynecol Surv 2000;55:644-9. 9. Sedlmeyer IL, Palmert MR. Delayed puberty: Analysis of a large case series from an academic center. J Clin Endocrinol Metab 2002;87:1613-20. 10. [advbiores.net]

Summary Epidemiology Prevalence is unknown but is thought to be less than 1/10,000. Clinical description Patients are born as females without ambiguity. [orpha.net]

[…] during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

[…] abnormality syndrome in females System(s) affected: cardiovascular; reproductive; endocrine/metabolic; musculoskeletal; nervous; renal/urologic Synonym(s): Ullrich-Turner syndrome; Bonnevie-Ullrich syndrome; monosomy X; sexual infantilism; gonadal dysgenesis Epidemiology [unboundmedicine.com]

The epidemiology of polycystic ovary syndrome. Prevalence and associated disease risks. Endocrinol Metab Clin North Am. 1999;28:247–63. 23. Chang RJ, Katz SE. Diagnosis of polycystic ovarian syndrome. [aafp.org]

[…] insensitivity): high-dose androgen therapy Gonadectomy for intra-abdominal testicles typically performed after puberty ( high risk of malignancy ) Psychological support References: [1] Aromatase deficiency Karyotype : 46 XX or 46 XY (normal sex development) Pathophysiology [amboss.com]

[…] sexual infantilism; gonadal dysgenesis Epidemiology Incidence Occurs in 1/2,500 live female births ~1–3% of all conceptuses affected, of whom Predominant sex: female only Prevalence Estimated 50,000 to 75,000 females in the United States Etiology and Pathophysiology [unboundmedicine.com]

Pathophysiology and clinical assessment of primary amenorrhea. Frontiers in Gynecological Endocrinology. New York: Springer; 2014. p. 3-7. 3. Speroff L, Fritz MA. Clinical gynecologic endocrinology and infertility. [advbiores.net]

Mahmutovic, Alma Mizdrak, Amina Luckin, Zineta Mulaosmanovic, Amela Salihovic, Almedina Alihodzic Int J Med Rev Case Rep. 2022; 6(14): 5-13 » Abstract » PDF» doi: 10.5455/IJMRCR.172-1638393956 Letter to the Editor Potential clinical relevance of the common pathophysiological [mdpub.net]

Currently, the basic pathophysiology of the lack of androgen effect on the genitalia is understood more fully. Some patients are receptor-negative; their cytosol receptors cannot bind DHT. [emedicine.medscape.com]

This thoroughly updated edition includes an introduction to risk assessment and screening and results of recent clinical trials and their implications for treatment and prevention. [books.google.com]

Chomatin negative Barr bodies Low immunoglobulins levels Prognostic factors High risk for gonadoblastoma (30%) if Y chromosome material is present, which may obliterate testicular elements and cause incorrect diagnosis Treatment Excise gonads early to prevent [pathologyoutlines.com]

Estrogen and progestin also prevent osteoporosis, which will occur if ovarian deficiency is not treated. There are multiple variants of Turner syndrome. [britannica.com]

Growth hormone therapy should start if the girl does not grow normally, to prevent short stature and social stigmatization later in life. [medicalnewstoday.com]

Growth Hormone Therapy In childhood, growth hormone therapy is standard to prevent short stature as an adult. [abdominalkey.com]