A girl with normal stature and minimal or absent pubertal development is seen in:
Correct Answer: Kallman syndrome
Description: Ans. a. Kallman syndrome (Ref: Nelson 19/e p1956; Harrison 19/e p2256. 18/e p2878)Normal stature and minimal or absent pubertal development in a girl is seen in Kallman syndrome.'Kallmann syndrome is a genetic condition where the primary symptom is a failure to start puberty or a failure to fully complete it. It occurs in both males and females and has the additional symptoms of hypogonadism and almost invariably infertility. Kallmann syndrome also features the additional symptom of an altered sense of smell: either totally absent (anosmia) or highly reduced (hyposmia).' - Nelson 19/e p1956Testicular Feminization Syndrome:Mutations in the androgen receptor (AR) cause resistance to androgen (testosterone, DHT) action or the androgen insensitivity syndrome (AIS)Q.Because the androgen receptor is X-linked. only males are affected and maternal carriers are phenotypicalIy normalQ.XY individuals with complete AIS (testicular feminization syndrome) have a female phenotype, normal breast developmentQ (due to aromatization of testosterone), a short vagina but no uterusQ (because MIS production is normal), scanty pubic and axillary hairQ, and female psychosexual orientationQ.Most patients present with inguinal hernia (containing testes) Q in childhood or with primary amenorrhea in adulthood.GonadectomyQ is usually performed, as there is a low risk of malignancy, and estrogen replacementQ is prescribed.Turner's Syndrome (Gonadal Dysgenesis: 45.X):MC karyotype is 45 XO, rest are 45XO/46XX, 45XO/46XY (mosaics)Loss of one X chromosome is due to non-disjunctionQ during meiosis, the X chromosome retained is maternal in originQ in most cases.MC chromosome disorder in human beings.Characteristic features are short stature, widely spaced nipples, webbed neckQTurner's Syndrome: PresentationIn neonatal periodAt PubertyAdditional features* Slow growthQ* Presence of shield chest, cystic hygroma, lymphedemaQ* Cardiac defects: Coarctation of aorta (MC), bicuspid aortic valve, mitral valve prolapse, aortic aneurysmQ* Urinary tract malformations, MC is Horse shoe shaped kidneyQ* Primary amenorrhea, failure to mature and infertilityQ.* Absent secondary sexual characteristics (due to bilateral streak gonads, no estrogen secretion leading to undeveloped breast, absent axillary and pubic hair)Q* Hormonal profile: Raised FSH and LH, decreased estrogen and progesteroneQ* Micrognathia, exaggerated epicanthal fold, low set earsQ* Sensorineural hearing loss, otitis media (conductive hearing loss)Q* Low posterior hair line, colour blindness, high arched palateQ* Broad shield like chest, lack of breast development, shortened 4th metacarpalQ* Cubitus valgusQ, hyperconvex nail, multiple pigmented naeviTesticular Dysgenesis:Patients with pure (or complete) gonadal dysgenesis (Swyer syndrome) have streak gonads, mullerian structures (due to insufficient AMH/MIS secretion), and a complete absence of androgenization.Gonadal dysgenesis can result from mutations or deletions of testis-promoting genes (WT1, SF1, SRY, SOX9, DHH, ATRX, ARX, DMRT) or duplication of chromosomal loci containing 'antitestis' genes (e.g., WNT4/RSPOI, DAXI).Absent (vanishing) testis syndrome (bilateral anorchia) reflects regression of the testis during development.Early testicular regression causes impaired androgenization in utero, and in most cases, androgenization of the external genitalia is either normal or slightly impaired (e.g., small penis, hypospadias).Kallmann SyndromeKallmann syndrome is a genetic condition where the primary symptom is a failure to start puberty or a failure to fully complete it.It occurs in both males and females and has the additional symptoms of hypogonadism and almost invariably infertility. Kallmann syndrome also features the additional symptom of an altered sense of smell: either totally absent (anosmia) or highly reduced (hyposmia).Kallmann syndrome occurs when the hypothalamic neurons that are responsible for releasing gonadotropin- releasing hormone (GnRH neurons) fail to migrate into the hypothalamus during embryonic development.Reproductive Features of Kallmann Syndrome* Failure to start or fully complete puberty in both men and women* Lack of testicle development in men* Infertility* Poorly defined secondary sexual characteristics in both men and women.* Primary amenorrhea or failure to start menstruation in women
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Gynaecology & Obstetrics
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