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Epidydidimis
Vas deferens
Degenerating Mullerian Duct
Seminal Vesicle
Ovaries
Fallopian Tubes
Uterus
Upper Part of Vagina
46,XY DSD
46,XX DSD
TURNER SYNDROME
FAIQ AQLI BIN RAZALI (46)
Introduction
Gonadal Dysgenesis
Absence of one set of genes from the short arm of one X chromosome (46,XX) or; Absence of one X chromosome (monosomy X = 45,X).
Clinical Picture
Short stature Low-set ears Webbed neck Cubitus valgus Atrophic breasts Low hairline Increased weight
Clinical Picture
Other manifestation:
Coarctation of the aorta Horseshoe kidney Lymphoedema Amenorrhea Reproductive sterility Rudimentary ovaries gonadal streak
Investigation
Prenatal: Amniocentesis/ Chorionic villous sampling Ultrasound
Treatment
Growth hormone - will increase growth and probably final adult height. Estrogen replacement therapy - to promote development of secondary sexual characteristics.
Klinefelter's Syndrome
AFIF BIN MOHD AZMI 40
Genetic disorder that only affects male Extra X chromosome due to non disjunction Affects testis development > small and abnormal function NOT INHERITED
-Weak muscle, strength -Slow development -Small / undescended testis Quiet Undemanding Less active
-Learn to talk late -Trouble using language to express -Reading problem -Trouble processing what they hear
-Similar to normal men -Usually taller -Higher risk for certain health problems (autoimmune disorder, breast cancer)
Male infertility
-NO CURE, NO PROBLEM : ITS NOT A LIFE THREATENING CONDITION -NO DRUGS OR INTERVENTION CAN CHANGE ONES CHROMOSOME -BUT WE CAN TREAT THE SYMPTOMS
-A way to make feminized man more masculine -Raise testosterone level to make bigger muscles, deeper voice, more facial and boy hair
TRUE HERMAPHRODITE
Fatin Hamiza Binti Mohd Nasir 07-6-47
Definition
Ovarian and testicular tissue in the same individual
Either bilateral or unilateral Ovatestes or separate testis and ovary With or without abnormal genitalia
Proposed Mechanisms
Mosaicism Chimerism Translocation of Y chromosomal material to an autosome or the X chromosome
Clinical Presentation
Quite variable, which depends on the influence of the Y chromosome material.
Diagnosis
Suggestive : Karyotyping Ductal structures present
Surgical Management
Determined by sex of rearing
Male Removal of ovarian tissue and Mullerian remnants Penile reconstruction Gonadectomy Testicular prosthesis placement Hormonal replacement therapy Female Removal of all testicular tissues Feminizing genitoplasty
Prognostic factors
Assign gender as soon as possible Dysplastic gonads
No other developmental anomalies Better chance for normal psychological, sexual and reproductive life
Male Pseudohermaphrodihitism
By : Aizat Bin Ruslin No : 42
Male Pseudohermaphrodihitism
Due to mainly :
Failure to utilize testosterone Androgen Receptor Deficiency (complete / incomplete) 5-alpha reductase deficiency Failure to produce testosterone Defect testicular steroidogenesis Resistant to gonadotropin Congenital lipoid adrenal hyperplasia Defective synthesis or secretion
Androgen insensitivity
Complete type Usually diagnosed
Incomplete type Ambiguous genitalia Normal testosterone, LH and testosterone/DHT ratio All intermediate type of androgen
FEMALE PSEUDOHEMAPRODITE
By: Ainulfadila Abu Hassan Shaari 44
CAUSES
CONGENITAL ADRENAL HYPERPLASIA 21 -hydroxylase deficiency 11-hydroxylase deficiency 3-hydroxysteroid dehydrogenase deficiency
Maternal androgen secreting tumours (ovary, adrenal) Maternal ingestion of androgenic drugs
Pregnenolone
Progesterone
17-OH Progestrone
Cortisol
Androgen
Clinical Manifestations
Vulva
Clitoris Urethral
Treatment
a) Medical Cortisol or a synthetic glucocorticoid, such as prednisone or dexamethasone b) Surgical Girls may need surgery to correct labial fusion and to reduce the size of the clitoris.
Mineralocorticoid if necessary.
Glucocorticoids inhibit adrenocorticotropin secretion, resulting in decreased production of adrenal androgens.
(07-6-43)
SEVERE HYPOSPADIAS
Genetic
Monozygotic twins
Endocrinal
Androgen DHT IVF (progeterone)
ETIOLOGY
Environmental
- Environmental substances with significant estrogenic activity
MANAGEMENT
(a) Diagnosis: History, clinical examination and prenatal diagnosis by 2DUS and 3DUS.
(b) Treatment:
VAGINAL ATRESIA