Ambiguous Sexual Genitalia
Background - importance and magnitude of problemDiagnostic goals - for overall category
- 21-hydroxylase deficiency
- 11á-hydroxylase deficiency
- 3á-hydroxysteroid dehydrogenase deficiency
- exogenous androgen/progestin ingestion
- maternal androgen secreting tumors
- true hermaphroditism
- sex chromosome abnormalities
- dysembryogenesis- ambiguity with multiple anomalies
adrenal disease
This is an uncommon clinical finding but does present periodically. Ambiguous genitalia can be noted at birth when one has difficulty declaring whether the newborn infant is male or female. It is very important not to assign sex to a newborn if there is a question about the genitalia. Initial diagnostic studies should be performed before pronouncing a gender assignment.
Most often, ambiguous genitalia in female infants result from excessive male hormone (androgen) influence on the developing fetus. The diagnostic goals are to determine if there is an excess of any of the sex steroids. Not infrequently, chromosomal abnormalities are present which result in a neutral or mixed genital appearance of either a female or male infant.
Return to choices || Top of pageAbdominopelvic masses in childhood
Background - importance and magnitude of problemDiagnostic goals - for overall category
- urachal cyst
- mesentaric cyst
- lymphoma
- ovarian tumor
- hematometra/colpos
retroperitoneal- polycystic kidney
- nephroblastoma
- neuroblastoma
- presacral tumor
It is rare for children to present with abdominal pelvic masses but it is a major concern when it occurs.
Abdominal pelvic masses should be evaluated for possible malignancy. After malignancy has been ruled out, various congenital causes of the mass may require surgical therapy.
Return to choices || Top of pageVaginal bleeding in children
Background - importance and magnitude of problemDiagnostic goals - for overall category
- gonorrhea
- mixed pyogenic
- hemophilus vaginalis
- fungal - candida albicans
- protozoa - trichomonas vaginalis
- parasites - pinworms - enterobius vermicularis
viral- condyloma accuminata
- herpes genitalis
- foreign body
- reflux of urine
- pelvic abscess
- fistula
- trauma
- accidental
- sexual
- prolapse of urethral mucosa
- vaginal prolapse
- uterine prolapse
- cervical ectropion
- ectopic ureter
- benign
- sarcoma botryoides
- coagulopathy
- hematologic neoplasm
- vulvar dystrophy
- vulvitis secondary to irritants
- self-induced bleeding
- premature endometrial activity
- endocrine abnormalities
- maternal estrogen withdrawal
- isosexual precocity
- exogenous hormone ingestion
- hypothyroidism
infection - primary
- bacterial
infection - secondary
anatomic abnormalities
neoplasms
blood dyscrasias
vulvar lesions
uterine bleeding
Vaginal bleeding in children is not very common even though young children such as 2 or 3 year olds have a tendency to put foreign bodies in almost every orifice in their body. Infectious causes, either primary or secondary to foreign bodies, are the most common cause of bleeding when it does occur. Sexual abuse, either acute or chronic, may be happening if the infections are usually sexually transmitted diseases.
Examination of a small child may have to be performed under anesthesia in order to get an adequate exam. Foreign bodies are a common cause of bleeding and thus should be excluded first. Cultures for sexually transmitted diseases should be taken if no foreign body is present or sexual abuse is at all suspected. Malignancies are a very rare cause of bleeding in childhood so that focus on malignancy occurs only after other etiologies are ruled out. Exogenous estrogen or other hormonal sources should always be considered.
Return to choices || Top of pagePremature sexual puberty development - increased gonadotropins
(complete isosexual true precocity )
Background - importance and magnitude of problemDiagnostic goals - for overall category
- craniopharyngioma
- optic glioma
- astrocytoma
- suprasellar teratoma
- hamartoma
- encephalitis
- meningitis
- neurofibromatosis (von Recklinghausen's disease)
- trauma
- ovarian choriocarcinoma
- ovarian dysgerminoma
- liver hepatoblastoma
- primary hypothyroidism
- constitutional sexual idiopathic precocity
CNS abnormalities
- tumor
infection
ectopic gonadotropin production
Premature puberty is very infrequent. Breast development may be the earliest sign and if it occurs before 9 years of age, investigation should begin for possible causes. Increased gonadotropins differentiates this category from pseudopuberty which is usually due to just estrogens or androgens.
Gonadotropins (LH and FSH) are drawn. A normal, prepubertal girl would have low values. Any normal or high values indicates that the central nervous system (CNS) has been turned on for sexual growth development. Often this indicates a CNS lesion which can be serious. Thyroid studies and CNS imaging studies help identify most of the causes except for the very rare ectopic sources of gonadotropins.
Return to choices || Top of pagePremature sexual development (pseudopuberty) - normal gonadotropins
(incomplete isosexual precocity )
Background - importance and magnitude of problemDiagnostic goals - for overall category
- polyostotic dysplasia (McCune-Albright syndrome)
ovarian tumors- granulosa-theca cell tumor
- follicular ovarian cyst
- luteal ovarian cyst
- arrhenoblastoma
- choriocarcinoma
- adrenocortical adenoma (feminizing)
- exogenous estrogens
- premature thelarche (breast development) - isolated
- premature pubarche (pubic hair development) - isolated
Premature puberty is most often a pseudopuberty when it occurs. The central nervous system has not actually been turned on prematurely, but rather the end organs, breasts, fat deposition, uterine lining etc, are "turned on" by hormones circulating in the blood. The source may be within the body, such as tumor production, or outside the body, such as medication or food ingestion.
A careful history is essential in detecting exogenous ingestion of hormonal substances. Imaging studies help rule out ovarian or adrenal tumors. Idiopathic causes are only diagnosed after the more serious causes (tumors) or the easily treatable causes (exogenous hormones) are ruled out.
Return to choices || Top of pagePremature sexual development - masculinized - increased androgens
( heterosexual precocity)
Background - importance and magnitude of problemDiagnostic goals - for overall category
- congenital adrenal hyperplasia
- adrenal tumor
- polycystic ovarian syndrome
- ovarian tumor
- exogenous androgen ingestion
adrenal
ovarian
A masculinized type of premature puberty is very uncommon. It may be more difficult to detect initially than a normal premature puberty because the early visible symptoms are only hair growth and distribution rather than breast development. The girl becomes a real "tomboy" rather than a young woman.
The primary diagnostic goal is to determine the presence and the source of the androgens. Very high levels are suspicious for tumors, either benign or rarely, malignant. Androgen containing medications and supplements are common in this day and exogenous sources should be carefully screened for.
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