Presentation
Affected males, on the other hand, do not present with obvious defects at birth, so are diagnosed much later in life, presenting with clinical symptoms, which include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid [ncbi.nlm.nih.gov]
The present report reviews the various phenotypes of hyperandrogenism during pregnancy and its origin, pathophysiology, and the effect of hyperandrogenism on the fetal developmental trajectory and offspring consequences. [scholars.opb.msu.edu]
Both ovarian and testicular tissue present, ambiguous genitalia Defective androgen receptor Testosterone secreting tumor Exogenous Steroid use Hypogonadotropic hypogonadism ↓ Testosterone & ↓ LH Kallman Syndrome Ovaries are present, but the external genitalia [quizlet.com]
Acronym AROD Synonyms Pseudohermaphroditism female due to placental aromatase deficiency Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
The patient presented with a disorder of sexual differentiation (DSD) and 46, XX karyotype. [endopedonline.com.ar]
Entire Body System
- Virilization
The mothers usually show the onset of progressive virilization during the third trimester. The male fetus has normal genitalia. See also disorders of sexual development [humpath.com]
The deficiency caused maternal virilization during pregnancy and pseudohermaphroditism of the female fetus. A 24-yr-old primigravida showed progressive virilization during the third trimester. [ncbi.nlm.nih.gov]
Normal testosterone and dihydrotestosterone (DHT) production in the first trimester are crucial for proper virilization of the external genital organs in 46,XY fetuses. [abstracts.eurospe.org]
- Pain
Stay current with coverage of hot topics including MRSA, neonatal pain, cardiovascular fetal interventions, care of the late preterm infant, and the developing intestinal microbiome. [books.google.com]
Affected males, on the other hand, do not present with obvious defects at birth, so are diagnosed much later in life, presenting with clinical symptoms, which include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid [ncbi.nlm.nih.gov]
Some discomforts, like nausea, back pain, and fatigue, are common during pregnancy. Sometimes it is hard to know what is normal. Call your health care provider if something is bothering or worrying you. [icdlist.com]
- Collapse
The salt wasting form of CAH can present with life-threatening medical consequences due to vomiting, diarrhea, hypovolemia, hyponatremia with hyperkalemia, hypoglycemia, and cardiovascular collapse. [gwumc.edu]
- Fatigue
Some discomforts, like nausea, back pain, and fatigue, are common during pregnancy. Sometimes it is hard to know what is normal. Call your health care provider if something is bothering or worrying you. [icdlist.com]
Respiratoric
- Aspiration
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The information in this site is provided only as a resource for PG entrance aspirants, and is not to be used for any diagnostic or treatment purposes. [pgblazer.com]
[…] estrogen increases responsiveness to oxytocin by increasing expression of oxytocin receptors. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2453515/ - c section – inc incidence of diff breathing Whereas the occurrence of birth asphyxia, trauma, and meconium aspiration [slideshare.net]
Gastrointestinal
- Vomiting
The salt wasting form of CAH can present with life-threatening medical consequences due to vomiting, diarrhea, hypovolemia, hyponatremia with hyperkalemia, hypoglycemia, and cardiovascular collapse. [gwumc.edu]
- Diarrhea
The salt wasting form of CAH can present with life-threatening medical consequences due to vomiting, diarrhea, hypovolemia, hyponatremia with hyperkalemia, hypoglycemia, and cardiovascular collapse. [gwumc.edu]
Musculoskeletal
- Bone Pain
Affected males, on the other hand, do not present with obvious defects at birth, so are diagnosed much later in life, presenting with clinical symptoms, which include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid [ncbi.nlm.nih.gov]
Skin
- Acne Vulgaris
Sebum production from the PSU is also increased by androgens. [21] Acne vulgaris can be aggravated or initiated by increased androgen levels as the excess sebum production and the shedding of hyperkeratinized epithelium may occlude the hair follicle. [emedicine.medscape.com]
- Hyperpigmentation
Placental steroid sulfatase deficiency Ambiguous genitalia of a preterm infant, showing clitoromegaly and hyperpigmentation. Foetal placental steroid sulfatase deficiency is a rare X-linked condition, and is seen only in males. [pgblazer.com]
Psychiatrical
- Suggestibility
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The physical examination begins with a search for any features suggestive of a malformation syndrome. The external genitalia are then inspected to determine the degree of masculinization. [pediatrics.aappublications.org]
By the time the patient has no significant phenotypic features suggestive of skeletal involvement. References 1. Auchus RJ, Chang AY. 46,XX DSD: the masculinized female. Best Pract Res Clin Endocrinol Metab 24(2):219-242, 2010 2. [endopedonline.com.ar]
These results were consistent with enzyme activity data, suggesting that the effect of COX inhibitors on aromatase begins at the transcriptional level [34]. [wikigenes.org]
Urogenital
- Clitoromegaly
Placental steroid sulfatase deficiency Ambiguous genitalia of a preterm infant, showing clitoromegaly and hyperpigmentation. Foetal placental steroid sulfatase deficiency is a rare X-linked condition, and is seen only in males. [pgblazer.com]
Hirsutism Defined as excessive growth of androgen-responsive terminal hair in women excess hair growth in areas where hair growth is normally minimal Virilization Defined as masculinization of a woman Presentation clitoromegaly (pathognomonic) acne deepening [medbullets.com]
These women may develop hirsutism, acne, an enlarged clitoris (clitoromegaly), and a deep voice. These features can appear as early as 12 weeks of pregnancy and go away soon after delivery. [ghr.nlm.nih.gov]
Furthermore, the low oestrogen will predispose those with the condition to osteoporosis. [2] Female [ edit ] After birth, female infant usually displays ambiguous genitalia including labioscrotal fusion, clitoromegaly, and phallic-structure genitalia. [en.wikipedia.org]
- Amenorrhea
Cystic ovaries and delayed bone maturation can occur during childhood and adolescence in these girls, who present at puberty with primary amenorrhea, failure of breast development, virilization, and hypergonadotrophic hypogonadism. [ncbi.nlm.nih.gov]
Presents with enlarged bilateral cystic ovaries, amenorrhea/oligomenorrhea, hirsutism, acne, subfertility. ↑ Adipose aromatization = ↑ Estrone → ↓ FSH compared to LH & DHEA = *↑ LH : FSH ratio* = ↑ androgens from Theca Interna Cells → ↓ Rate of follicular [quizlet.com]
The lack of estrogen results in the presentation of primary amenorrhea and tall stature. [en.wikipedia.org]
National Academy of Sciences of the United States of America; (United States) The authors identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea [osti.gov]
Other children with intersex disorders, however, may not be diagnosed until childhood or adolescence when virilization, premature pubarche or thelarche, or primary amenorrhea are investigated. [pediatrics.aappublications.org]
- Primary Amenorrhea
Cystic ovaries and delayed bone maturation can occur during childhood and adolescence in these girls, who present at puberty with primary amenorrhea, failure of breast development, virilization, and hypergonadotrophic hypogonadism. [ncbi.nlm.nih.gov]
The lack of estrogen results in the presentation of primary amenorrhea and tall stature. [en.wikipedia.org]
amenorrhea and sexual infantilism, and polycystic ovaries. [osti.gov]
Other children with intersex disorders, however, may not be diagnosed until childhood or adolescence when virilization, premature pubarche or thelarche, or primary amenorrhea are investigated. [pediatrics.aappublications.org]
Workup
Following the examination by the family’s pediatrician, female pseudohermaphroditism was suspected, and a comprehensive workup was initiated. The hormonal changes in the mother before and after delivery are reported in Table 2. [academic.oup.com]
X-Ray
- Delayed Bone Age
The abnormal bone growth results in slowed mineralization of bones (delayed bone age) and thinning of the bones ( osteoporosis ), which can lead to bone fractures with little trauma. [ghr.nlm.nih.gov]
The abnormal bone growth results in slowed mineralization of bones (delayed bone age) and thinning of the bones (%%PX0000U8osteoporosis%%), which can lead to bone fractures with little trauma. [medlineplus.gov]
Serum
- Androgens Increased
Sebum production from the PSU is also increased by androgens. [21] Acne vulgaris can be aggravated or initiated by increased androgen levels as the excess sebum production and the shedding of hyperkeratinized epithelium may occlude the hair follicle. [emedicine.medscape.com]
- Hyponatremia
The salt wasting form of CAH can present with life-threatening medical consequences due to vomiting, diarrhea, hypovolemia, hyponatremia with hyperkalemia, hypoglycemia, and cardiovascular collapse. [gwumc.edu]
Treatment
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Clinical efficacy of lower dose flutamide 125 mg/day in the treatment of hirsutism. J Endocrinol Invest 22: 165, 1999. PubMed CrossRef Google Scholar 21. Vigersky RA, Mehlman I, Glass AR, Smith CE. Treatment of hirsute women with cimetidine. [link.springer.com]
Prognosis
Conceptually, however, it is simplest to think of these causes in terms of the histology of the infant's gonads, which determines the prognosis with regard to fertility and pubertal development ( Table 2 ). [pediatrics.aappublications.org]
Chem. (2004) [ Pubmed ] High expression of steroid sulfatase mRNA predicts poor prognosis in patients with estrogen receptor-positive breast cancer. Miyoshi, Y., Ando, A., Hasegawa, S., Ishitobi, M., Taguchi, T., Tamaki, Y., Noguchi, S. Clin. [wikigenes.org]
Etiology
The incidence and prevalence of ambiguous genitalia has not been as well documented as some other medical conditions because of the numerous varying etiologies. [gwumc.edu]
A retrospective study by Elhassan et al indicated that in women with androgen excess, the pattern of excess varies according to the etiology. [emedicine.medscape.com]
Epidemiology
By contrast, with the exception of epidemiological studies assessing breast cancer risk and other scientific studies, the main value of E3 measurements is in the diagnosis of maternal-fetal diseases. [mayomedicallaboratories.com]
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In premenopausal women, polycystic ovary syndrome was the primary cause of severe DHEAS excess. [24] Epidemiology Frequency United States The prevalence of androgen excess is 8%. [emedicine.medscape.com]
Pathophysiology
Covers the full spectrum of reproductive pathophysiology and disorders, from pregnancy and birth to reproductive aging. Includes the work of leaders in the field of reproductive endocrinology for guidance you can trust. [books.google.com]
The present report reviews the various phenotypes of hyperandrogenism during pregnancy and its origin, pathophysiology, and the effect of hyperandrogenism on the fetal developmental trajectory and offspring consequences. [scholars.opb.msu.edu]
Assessing estrogen metabolism, estrogen and estrogen-like medications, and other endogenous or exogenous factors impacting on estrogen metabolism in the context of other basic scientific and clinical studies Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]
Hyperandrogenism, insulin resistance, and acanthosis nigricans syndrome: a common endocrinopathy with distinct pathophysiologic features. Am J Obstet Gynecol. 1983 Sep 1. 147(1):90-101. [Medline]. Legro RS. [emedicine.medscape.com]
Prevention
Yet a lack of aromatase in the breast tissue induces a positive result by preventing estrogen dependent breast cancer. [www-personal.umd.umich.edu]
This conversion in the placenta prevents androgens from directing sexual development in female fetuses. After birth, the conversion of androgens to estrogens takes place in multiple tissues. [ghr.nlm.nih.gov]
Animal studies have demonstrated a role for estrogen in preventing the formation of new atherosclerotic plaques, but this role has not yet been demonstrated in humans. Androgens Arch Intern Med. 2006 Jul 10;166(13):1380-8. [pathophys.org]
There is a good reason for this: in the first days of pregnancy, corticotrophin-releasing hormone suppresses the mother’s immune system, preventing the mother’s body from attacking the foetus. [slideshare.net]