Case 1 presented at age 17 with perineal hypospadias virilization without gynecomastia and a female to male gender role change at puberty. [ncbi.nlm.nih.gov]

• Inguinal Mass

  An infant was born with sexual ambiguity and bilateral inguinal masses. Bone marrow karyotype was 45, XY,-7. Serum testosterone level was low normal. The infant died on the fourth day of life. [ncbi.nlm.nih.gov]

  The examination showed breast development on Tanner’s stage III, sparse pubic hair, female external genitalia and single, bilateral inguinal masses. Chromosome study revealed to be a 46XY individual. [endocrine-abstracts.org]

• Turkish

  OBJECTIVES: To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family. [ncbi.nlm.nih.gov]

• Projectile Vomiting

  At 2 weeks he required therapy for severe dehydration and projectile vomiting. The parents were first cousins and one female sibling had died suddenly at 2 months. [ncbi.nlm.nih.gov]

• Osteopenia

  RESULTS: Three patients presented normal bone mineral density of the lumbar column (L1-L4) and femur neck, and the other patient presented a slight osteopenia in the lumbar column. [ncbi.nlm.nih.gov]

Diagnostic workup showed that both hernial sacs contain testicles with the absence of ovaries, fallopian tubes and uterus. [edoriumjournals.com]

• Karyotype Abnormal

  A consistent karyotypic abnormality consisting of isochromosomes of the long arms of 1 and 17, and an interstitial deletion of the long arm of 5 was found in cultures of tumor cells, but no karyotypic abnormalities were found in peripheral blood lymphocytes [ncbi.nlm.nih.gov]

• Torsades De Pointes

  Torsades de pointes is a life-threatening arrhythmia associated with a number of causes, but is very rare among endocrinologic disorders. [ncbi.nlm.nih.gov]

• Foam Cell

  A child with male pseudohermaphroditism, Wilms' tumor, and glomerulonephritis (Drash syndrome) was found to have a proliferative glomerular lesion, extensive renal cortical interstitial and glomerular scarring, and marked renal tubular foam cell change [ncbi.nlm.nih.gov]

The addition of estrogen (ethinylestradiol, 0.05 mg daily) to dexamethasone treatment produced only poor development of the breasts six months later. [ncbi.nlm.nih.gov]

Vaginal versus abdominal reconstructive surgery for the treatment of pelvic support defects: a prospective randomized study with long-term outcome evaluation. ‏ [books.google.com]

Treatment & Monitoring What are the treatments for the condition? Often the testicles are removed when the hernia repair is done. If not, the testicles should be removed after puberty. This is fairly minor surgery. [medicineonline.com]

This syndrome has complete and partial forms, and its early recognition is important both for patient management and for assessment of prognosis. [ncbi.nlm.nih.gov]

I., Ohrlander, S. (1990) 'Lack of correlation between a high caesarean section rate and improved prognosis for low-birthweight twins (2500 g). ‎ Pagina 274 - Fetal toxoplasmosis: Outcome of pregnancy and infant follow-up after in útero treatment. J. [books.google.ro]

Prognosis With appropriate corrective surgery, the appearance of external genitalia may appear normal. However, other problems such as virilization may appear later in life. [encyclopedia.com]

[…] can provide more information on PAIS: Intersex Society of North America -- www.isna.org/faq/conditions/pais NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome Outlook (Prognosis [leehealth.org]

Among those we found 5 cases of male pseudohermaphroditism of different etiologies. Three males presented by impalpable testes with ambiguous genitalia and 2 females presented by primary amenorrhea. [ncbi.nlm.nih.gov]

The newest version of MPH classification is reviewed and discussed in relation to etiological backgrounds of each type of the disorder. [ci.nii.ac.jp]

Google Scholar 38 : Epidemiological idemiological and clinical aspects of carcinoma in situ of the testis. Eur. Urol. 1993 ; 23 : 104. Google Scholar 39 Scully, R.E.: Gonadoblastoma: a review of 74 cases. Cancer 1970 ; 25 : 1340. [auajournals.org]

Utiger EPIDEMIOLOGY The estimated incidence of male pseudohermaphroditism is between 1/20.000 and 1/99.000 live male births. Female pseudohermaphroditism has a prevalence of 1 case per 16.000 population. [flipper.diff.org]

[…] been described in which the ability to conserve sodium was intact. 108, 110, 111, 113, 115, 116, 117, 118, 119, 120, 121, 122, 123 It is claimed that 3 β -HSD deficiency is the second most common steroidogenic defect, 124 but as yet there have been no epidemiologic [glowm.com]

These findings are similar to those reported previously in patients with this syndrome and suggest a common pathophysiological abnormality in all of the patients reported so far. [ncbi.nlm.nih.gov]

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998; 19 521-539 4 Hardelin J P. [doi.org]

The clinical presentations may vary according to the severity of the disorder but the pathophysiology is similar. [webmedcentral.com]

Pathophysiology of Congenital Adrenal Hyperplasia, from Medscape Reference. [flipper.diff.org]

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]

Salt restriction resulted in an increase in serum ALDO and no salt loss in Case 1 whereas in Case 2 the substantial rise in PRA and serum ALDO were unable to prevent slight urinary sodium loss. [ncbi.nlm.nih.gov]

Prevention & Expectations What are the long-term effects of the condition? A person with complete testicular feminization is a completely normal female externally. The person can lead quite normal lives, but cannot bear children. [medicineonline.com]

OF THE FORMATION OR RELEASE OF GAMETES 280 THE PREVENTION OF FERTILIZATION 292 THE PREVENTION OF IMPLANTATION OR DEVELOPMENT OF THE EARLY EMBRYO 298 OVERVIEW 305 Hormonal contributions to errors of sexual differentiation 307 EXPOSURE TO SYNTHETIC HORMONALLY [books.google.ro]