Female Pseudo Hermaphroditism: Late Onset Congenital Adrenal Hyperplasia. 2018

Nosheen Akhtar, and Zartaj Hayat, and Arifa Bari
Department of Obstetrics and Gynaecology, Foundation University Medical College /Fauji Foundation Hospital Rawalpindi, Pakistan.

Non-classic congenital adrenal hyperplasia is a genetic condition caused by deficiency of 21- hydroxylase deficiency (NCAH). It is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. We present four cases of non-classical congenital adrenal hyperplasia presented in gynae OPD foundation university medical college Fauji foundation hospital from Jan 2016 to March 2017. The presenting complaints were hirsuitim, menstrual problem and virilization of genitalia. Two girls were having primary amenorrhea while rests of two were having secondary amenorrhea. Two patients were already diagnosed as non-classical congenital adrenal hyperplasia due to ambiguous genitalia at the time of birth while the rest of two with marked clitoromegaly were diagnosed during workup in gynae OPD. Menarche was achieved successfully among those with primary amenorrhea after treatment. All four girls were referred to plastic surgery for clitoral reduction surgery. The post-surgery patient satisfaction level was high. Correct diagnosis of the disease can cure the patient instead of letting her live a life of being labeled with social stigmata of an intersex individual.

UI MeSH Term Description Entries
D002987 Clitoris An erectile structure homologous with the penis, situated beneath the anterior labial commissure, partially hidden between the anterior ends of the labia minora.
D005260 Female Females
D006628 Hirsutism A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth.
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000312 Adrenal Hyperplasia, Congenital A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. Congenital Adrenal Hyperplasia,Hyperplasia, Congenital Adrenal,Adrenal Hyperplasias, Congenital,Congenital Adrenal Hyperplasias,Hyperplasias, Congenital Adrenal
D000568 Amenorrhea Absence of menstruation. Postpartum Amenorrhea,Amenorrhea, Postpartum,Postpartum Amenorrheas
D012734 Disorders of Sex Development In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. Disorders of Sexual Development,Sex Development Disorders,Sex Differentiation Disorders,Ambiguous Genitalia,Genital Ambiguity,Hermaphroditism,Intersex Conditions,Intersexuality,Pseudohermaphroditism,Sexual Development Disorders,Sexual Differentiation Disorders,Ambiguities, Genital,Ambiguity, Genital,Condition, Intersex,Conditions, Intersex,Differentiation Disorder, Sex,Differentiation Disorder, Sexual,Differentiation Disorders, Sex,Differentiation Disorders, Sexual,Disorder, Sex Differentiation,Disorder, Sexual Differentiation,Disorders, Sex Differentiation,Disorders, Sexual Differentiation,Genital Ambiguities,Genitalia, Ambiguous,Intersex Condition,Intersexualities,Sex Development Disorder,Sex Differentiation Disorder,Sexual Development Disorder,Sexual Differentiation Disorder
D058489 46, XX Disorders of Sex Development Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical. 46, XX DSD,46,XX DSD,46,XX Disorders of Sex Development,Female Pseudohermaphroditism,Female Pseudohermaphroditisms,Pseudohermaphroditism, Female,Pseudohermaphroditisms, Female

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