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Disorders of Sexual Differentiation: a Study on the Incidence and Types of Female Pseudo Hermaphrodites J.Radhika *1, C.Bhuvaneswari 2, Arudyuti Chowdhury 3

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Disorders of Sexual Differentiation: a Study on the Incidence and Types of Female Pseudo Hermaphrodites J.Radhika *1, C.Bhuvaneswari 2, Arudyuti Chowdhury 3 International Journal of Integrative Medical Sciences, Int J Intg Med Sci 2016, Vol 3(12):455-60. ISSN 2394 - 4137 DOI: http://dx.doi.org/10.16965/ijims.2016.156 Original Research Article Disorders of Sexual Differentiation: A study on the Incidence and Types of Female Pseudo Hermaphrodites J.Radhika *1, C.Bhuvaneswari 2, Arudyuti Chowdhury 3. *1 Associate Professor, Department of Anatomy, SRM Medical College Hospital & Research Centre, SRM University, Kattankulathur, India. 2 Assistant Professor, Department of Anatomy, SRM Medical College Hospital & Research Centre, SRM University, Kattankulathur, India. 3 Professor, Prasad Institute of Medical Sciences, Lucknow, India. ABSTRACT Aim: The present study was done to find out the prevalence of disorders of sexual development in our population and the genetic and environmental factors in the causation of disorders. Primarily, the study focused on the incidence and types of Female Pseudo Hermaphrodites. Materials and Methods: The present study included 300 cases over a period of 3 years in the Institute of Obstetrics and Gynaecology, Egmore. Of these 300 cases, 29.3% were identified as Female pseudo hermaphrodite by examining the external and internal genitalia and through Karyotypes, ultrasound and hormonal assay. Results and Conclusion: The increased incidence of Female Pseudo hermaphrodite was found to be due to avoidable factors except for a few cases. This highlights the importance of early diagnosis for assigning appropriate gender without causing much social and emotional problems. KEY WORDS: Ambiguous Genitalia, Female Pseudo Hermaphrodite, Masculinization Of External Genitalia, Karyotype. Address for correspondence: Dr.J.Radhika, M.D, Ph.D, Associate Professor, Department of Anatomy, SRM Medical College Hospital & Research Centre, SRM University, Kattankulathur, India. E-Mail: [email protected] Online Access and Article Informtaion Quick Response code International Journal of Integrative Medical Sciences www.imedsciences.com Received: 28-11-2016 Accepted: 20-12-2016 Reviewed: 28-11-2016 Published: 31-12-2016 DOI: 10.16965/ijims.2016.156 Source of Funding: Self Conflicts of interest: None duct system and the formation of external BACKGROUND genitalia [1]. Ambiguous Genitalia refers to any infant with a Maleness or femaleness may be assessed by at confusing appearance of the external genitalia. least five points, namely chromosomal In a human being any discrepancy between the constitution or karyotype, gonadal type, internal gonad and external genitalia is referred phenotype or bodily configuration, chemical or to as intersex state. hormonal and psychological make up. But when Prenatally sexual differentiation follows a there is a continuity in which there is mixed specific sequence of events. First is the characters of male and female, pseudo establishment of genetic sex. Second under the hermaphroditism is exhibited. control of the genetic sex the gonads different- Female Pseudo Hermaphrodite: Female Pseudo iate determining the hormonal environment of Hermaphroditism are 46XX genetic females who the embryo, the differentiation of the internal have been exposed to excessive amounts of Int J Intg Med Sci 2016;3(12):455-60. ISSN 2394 - 4137 455 J.Radhika, C.Bhuvaneswari, Arudyuti Chowdhury. DISORDERS OF SEXUAL DIFFERENTIATION: A STUDY ON THE INCIDENCE AND TYPES OF FEMALE PSEUDO HERMAPHRODITES. androgen at some period of time before 12weeks retention and androgenetic features are similar of pregnancy or during the first trimester. They to 21 hydroxylase deficiency. However, because have normal internal genitalia with ovaries, of salt retention they are prone to develop fallopian tubes and a uterus but the external Hypertension [7]. genitalia are masculinized to a degree that may Steroid 11 beta-hydroxylase (P-450 (11) beta) is vary from minimal phallic enlargement to a mitochondrial cytochrome. P-450 enzyme is complete masculinization in which the labio necessary for cortisol biosynthesis. Deficiency scrotal folds are fused. The differential point is of this causes Congenital Adrenal Hyperplasia that they do not have palpable gonads [2]. Sex [8]. assignment should be females regardless of any Exogenous Androgens: Androgen precursors contrary impression given by external genitalia. given to pregnant mothers [9] readily cross the Persisting androgenic stimulation can be placental barrier. When this occurs at the first suppressed and genital ambiguity corrected trimester, masculinization of the fetus occurs. surgically. Progestational agents given to mother to The androgens responsible for genetic ambiguity prevent miscarriage also cause masculinization is due to endogenous causes due to biochemical of the fetus. block impeding the formation of cortisol The degree of masculinization produced depends (Androgenital syndrome) or due to exogenous upon the dose and timing of medication [10]. causes – due to androgens which are elaborated The derangement is milder than seen in by maternal tumor and ingestion of hormones Androgenital syndrome. for maintenance of pregnancy during the 1st trimester. Androgen secreting tumors (Arrhenoblastoma or Luteoma) in mothers [11] can cause masculini- Adrenogenital Syndrome [3] results due to zed females having empty scrotum and several enzymatic deficiencies which have in masculinized external genitalia [12]. common the effect of impeding the formation of cortisol. MATERIALS AND METHODS All babies delivered at the Institute of Obstetrics The 3 enzyme defects being and Gynaecology, Egmore, Madras-8 during the · 3 01 dehydrogenase deficiency period of study from June 1991- 31st May 1994 · 21 hydroxylase deficiency were screened for Ambiguous Genitalia and for · 11 hydroxylase deficiency associated anomalies. Also, patients referred to 01 dehydrogenase deficiency: It [4] is the rarest the Genetic Clinics were examined. All live births of the three and since it is the one associated and still births with Ambiguous Genitalia were with the greatest degree of salt wasting, long studied prospectively according to a defined time survivors are few. Masculinization is not protocol comprising of clinical and laboratory as severe as that seen in other forms of investigations. Only cases presented with Ambiguous Genitalia. ambiguity of the genitalia have been included 21 hydroxylase deficiency: The block resulting in this study (Ovarian dysgenesis, Turner’s from deficiency of this enzyme leads to elevated syndrome and seminiferous tubules dysgenesis levels of serum 17 hydroxy progesterone and (KFS) have been excluded from this study as they increased excretion of its metabolite form a separate entity and are beyond the scope pregnanetriol. Hence salt wasting is common of this study). and generally requires treatment. The result is History Recording of the patient (Child): The large muscular child but short adult. Menses and points noted are: Age at presentation, Age at breast development are suppressed by elevated onset of symptoms, Preterm or term, Still birth/ serum androgen [5]. Live birth, Presence of symptoms like diarrhea, Prenatal Diagnosis of adrenal hyperplasia due vomiting/dehydration. to 21 hydroxylase deficiency by allele specific Clinical Examination: A detailed head to foot hybridization and Southern blot [6]. examination made which included weight, 11 hydroxylase deficiency: It results in salt height and any dysmorphic features indicative Int J Intg Med Sci 2016;3(12):455-60. ISSN 2394 - 4137 456 J.Radhika, C.Bhuvaneswari, Arudyuti Chowdhury. DISORDERS OF SEXUAL DIFFERENTIATION: A STUDY ON THE INCIDENCE AND TYPES OF FEMALE PSEUDO HERMAPHRODITES. of a syndrome. and correlating it with karyotyping, ultrasound Examination of genitalia: Phallus – Present/ and hormonal assay. Size Or Clitoris – Absent/Size, Scrotal sac – Clinical Types of Cases Encountered: Present /Absent/ Size/rugae, bifid, Labia – Normal, hypoplastic or abnormal, Urethral Table 1: Spectrum of Female Pseudo Hermaphrodite. opening – Site, Vaginal opening – Present/ Case Type Number absent, Anal opening, Gonad site/size, Inguinal Female Pseudo Hermaphrodite Hernia or any other abnormality. Total 88 Parental History Female Genitalia with Clitoral Hypertrophy and no gonads felt Residence: Nearby Factories and Industrial without pigmentation 40 areas from which toxic effluents and pollutants Female Genitalia with Clitoral are present. Hypertrophy and Precocious Occupation: Father or mother exposing them Puberty and no gonads felt 2 to radiation and toxic chemicals. Example, Large phallus and fused Labia 16 Farmers exposed to pesticides, laboratory Large phallus with hypospadias exposure to chemicals or radiation. and absent gonads 23 Habits: Alcoholism, smoking, tobacco chewing, Cloacal anomaly 2 Paternal age, History of Illness, and or intake of Trisomy 13 1 drugs by father prior to conception Trisomy 18 1 Maternal Age: Periods-regular/irregular, history Triploidy 3 (Still birth) of intake of hormones, Hormone Preparation for Table 2: Female Pseudo Hermaphrodites (Genetic Types). (1) Postponement of periods (2) contraception (3) To induce abortion. History of intake of drugs Case Type Number Percentage like steroids or other drugs periconceptionally. Chromosomal 7 7.95% Single Gene Congenital Maternal illness: diabetes, pyrexia due to any 41 46.59% causes – Tumors in the mother. Adrenal Hyperplasia Maternal Ingestion of Pedigree charting: History of consanguinity, 40 45.45% Hormones Fetal loss in the family, Infertility, Malformation, Neonatal deaths, Ambiguous Genitalia,
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