Male puberty and its disorders

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Disorders of puberty,noremal growth precocious puberty and delayed puberty and treatment of each case

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Male puberty and its disorders

  1. 1. ‫م‬ِ ‫حي‬ِ ‫ر‬ّ ‫ال‬ ‫ن‬ِ ‫م‬َ ‫ح‬ْ ‫ر‬ّ ‫ال‬ ‫ه‬ِ ‫ل‬ّ ‫ال‬ ‫م‬ِ ‫س‬ْ ‫ب‬ِ )‫ه‬ُ ‫ل‬َ ‫ل‬َ ‫قو‬ُ ‫ي‬َ ‫ن‬ْ ‫أ‬َ ‫يئا‬ْ ‫ش‬َ ‫د‬َ ‫را‬َ ‫أ‬َ ‫ذا‬َ ‫إ‬ِ ‫ه‬ُ ‫ر‬ُ ‫م‬ْ ‫أ‬َ ‫ما‬َ ‫ن‬ّ ‫إ‬ِ (‫ن‬ُ ‫كو‬ُ ‫ي‬َ ‫ف‬َ ‫ن‬ْ ‫ك‬ُ : )‫يـس‬ّ82( ‫م‬ْ ‫ظي‬ِ ‫ع‬َ ‫ل‬ْ ‫ا‬ ‫ه‬ُ ‫ل‬ّ ‫ال‬ ‫ق‬َ ‫د‬َ ‫ص‬َ
  2. 2. MALE PUBERTY AND ITS DISORDERS
  3. 3. By Khalid Mohamed Mohamed Gharib (M.B.,B.CH) Essay submitted for partial fulfillment ofEssay submitted for partial fulfillment of master degreemaster degree
  4. 4. Under Supervision ofUnder Supervision of Professor Ahmed Galal Selim Professor and head of Dermatology and Venereology Department Faculty of Medicine Zagazig University Professor Hend Darwish Ali Gamil Professor of Dermatology and Venereology Faculty of Medicine Zagazig University Dr. Ahmed Ahmed Rashid Mohamed Assistant Prof. of Dermatology and Venereology Faculty of Medicine Zagazig University
  5. 5. MALE PUBERTYMALE PUBERTY Puberty is derived from the Latin wordPuberty is derived from the Latin word pubertans, meaning adulthood. It is apubertans, meaning adulthood. It is a complex developmental process leading tocomplex developmental process leading to physical and sexual maturation that involvesphysical and sexual maturation that involves the development of secondary sexualthe development of secondary sexual characteristics as well as acceleration ofcharacteristics as well as acceleration of growth, change in body composition andgrowth, change in body composition and psychological maturationpsychological maturation (Kakarla, and(Kakarla, and Bradshaw, 2003)Bradshaw, 2003) ..
  6. 6.  The age of onset varies as a function of sex, healthThe age of onset varies as a function of sex, health status, genetics, nutrition and activity level. It usuallystatus, genetics, nutrition and activity level. It usually begins between the ages 9-14 years in boysbegins between the ages 9-14 years in boys (Pinyerd(Pinyerd and Zipf, 2005)and Zipf, 2005) ..  The factors that regulate the onset of puberty remainThe factors that regulate the onset of puberty remain elusive. Certainly, environmental and metabolicelusive. Certainly, environmental and metabolic factors are critical regulators of HPG axis and thefactors are critical regulators of HPG axis and the timing of puberty, but their influence on puberty istiming of puberty, but their influence on puberty is dependant on significant genetic controldependant on significant genetic control (Palmert,(Palmert, 2001)2001) ..
  7. 7. GENE REGULATION OFGENE REGULATION OF PUBERTYPUBERTY  Gene appears to be a signal for the beginning ofGene appears to be a signal for the beginning of puberty in human beings. The newly identified gene,puberty in human beings. The newly identified gene, known as GPR54known as GPR54 (G protein-coupled receptor 54)(G protein-coupled receptor 54) appears very necessary for the normal reproductionappears very necessary for the normal reproduction functioning in human beingsfunctioning in human beings (Ebling, 2005)(Ebling, 2005) ..  Mutation in GPR54 in human causesMutation in GPR54 in human causes hypogonadotropic hypogonadism, pubertal delay andhypogonadotropic hypogonadism, pubertal delay and sexual infantilism that can be corrected bysexual infantilism that can be corrected by administration of exogenous GnRHadministration of exogenous GnRH (Seminara,(Seminara, 2003)2003) ..
  8. 8. PHYSIOLOGY OF PUBERTYPHYSIOLOGY OF PUBERTY  The standard clinical system for describingThe standard clinical system for describing normal pubertal development is the five-stagenormal pubertal development is the five-stage system established bysystem established by Tanner andTanner and Marshall(1970)Marshall(1970) based on testicular size,based on testicular size, penile development and distribution andpenile development and distribution and character of pubic hair. In boys, testicularcharacter of pubic hair. In boys, testicular enlargement is the first physical evidence ofenlargement is the first physical evidence of puberty, followed by scrotal thinning,puberty, followed by scrotal thinning, development of pubic hair and peniledevelopment of pubic hair and penile enlargementenlargement ..
  9. 9. The Tanner stages of puberty in boysThe Tanner stages of puberty in boys StandardStandard GenitaliaGenitalia Pubic hairPubic hair GrowthGrowth OtherOther PrepubertalPrepubertal Testes: < 2.5 cmTestes: < 2.5 cm Prepubertal, villus hairPrepubertal, villus hair onlyonly Basal: about 5.0 to 6.0Basal: about 5.0 to 6.0 cm per yearcm per year AdrenarcheAdrenarche Thinning and reddening ofThinning and reddening of scrotum (11.9 years).Testes:scrotum (11.9 years).Testes: 2.5 to 3.2 cm2.5 to 3.2 cm Sparse growth of slightlySparse growth of slightly pigmented hair at base ofpigmented hair at base of penis (12.3 years)penis (12.3 years) Basal: about 5.0 to 6.0Basal: about 5.0 to 6.0 cm per yearcm per year Decrease in totalDecrease in total body fatbody fat Growth of penis, especiallyGrowth of penis, especially length (13.2 years) .Testes:length (13.2 years) .Testes: 3.3 to 4.0 cm3.3 to 4.0 cm Thicker, curlier hairThicker, curlier hair spreads to the mons pubisspreads to the mons pubis (13.9 years(13.9 years Accelerated: about 7.0Accelerated: about 7.0 to 8.0 cm per yearto 8.0 cm per year Gynecomastia (13.2Gynecomastia (13.2 years) Voice breakyears) Voice break (13.5 years) Muscle(13.5 years) Muscle mass increasemass increase Growth of penis and glands,Growth of penis and glands, darkening of scrotum (14.3darkening of scrotum (14.3 years).Testes: 4.1 to 4.5 cmyears).Testes: 4.1 to 4.5 cm Adult-type hair but noAdult-type hair but no spread to medial thighspread to medial thigh (14.7 years)(14.7 years) Peak velocity: aboutPeak velocity: about 10.0 cm per year (13.810.0 cm per year (13.8 years)years) Axillary hair (14.0Axillary hair (14.0 years). Voice changeyears). Voice change (14.1 years) Acne(14.1 years) Acne (14.3 years)(14.3 years) Adult genitalia (15.1 years)Adult genitalia (15.1 years) Testes: > 4.5 cmTestes: > 4.5 cm Adult-type hair withAdult-type hair with spread to medial thighsspread to medial thighs but not up linea alba (15.3but not up linea alba (15.3 years)years) Deceleration andDeceleration and cessation (about 17cessation (about 17 years)years) Facial hair (14.9Facial hair (14.9 years) Muscle massyears) Muscle mass continues tocontinues to increase after Stageincrease after Stage 55 (Kakarla, and Bradshaw, 2003)(Kakarla, and Bradshaw, 2003)
  10. 10. ADRENARCHEADRENARCHE  Adrenarche is the puberty of the adrenal gland, whichAdrenarche is the puberty of the adrenal gland, which refers to the onset of dihydroepiandrosterone (DHEA)refers to the onset of dihydroepiandrosterone (DHEA) and DHEA-sulphate (DHEA-S) production from theand DHEA-sulphate (DHEA-S) production from the adrenal zona reticularis that can be detected at aroundadrenal zona reticularis that can be detected at around 6 years of age6 years of age (Remer et al, 2005)(Remer et al, 2005) .. The phenotypicThe phenotypic result of adrenarche is pubarche or the developmentresult of adrenarche is pubarche or the development of axillary's and pubic hair that appears in boys atof axillary's and pubic hair that appears in boys at about age 8 years. The phenomenon of adrenarche isabout age 8 years. The phenomenon of adrenarche is unique to human beingsunique to human beings (Auchus, 2004)(Auchus, 2004) ..
  11. 11. HORMONAL CHANGES DURINGHORMONAL CHANGES DURING PUBERTYPUBERTY  The onset of puberty is heralded by strikingThe onset of puberty is heralded by striking increase in nocturnal LH secretion, manifested by anincrease in nocturnal LH secretion, manifested by an increase in amplitude and frequency of LH pulses.increase in amplitude and frequency of LH pulses. These increases of LH precede rises of sex steroidThese increases of LH precede rises of sex steroid concentrations and development of secondary sexconcentrations and development of secondary sex characteristicscharacteristics (Pitteloud et al, 2002)(Pitteloud et al, 2002) ..  Puberty is a period during which many dramaticPuberty is a period during which many dramatic hormonal changes occur. Which lead to maturation ofhormonal changes occur. Which lead to maturation of HPG axis as gonadotropin releasing hormone,HPG axis as gonadotropin releasing hormone, gonadotropins, adrenal steroids, testosterone,gonadotropins, adrenal steroids, testosterone, oestrogen, prolactin, insulin, inhibin, leptin, growthoestrogen, prolactin, insulin, inhibin, leptin, growth hormone and othershormone and others (Ebling, 2005)(Ebling, 2005) ..
  12. 12. ↑↑ ↑↑ ↑↑ ↑↑ Maturation of hypothalamic-Maturation of hypothalamic- pituitary-gonadal axispituitary-gonadal axis PituitaryPituitary LH FSHLH FSH HypothalamusHypothalamus GnRHGnRH GONADGONAD Leydig Cell Theca Cell Sertoli Cell GranulosaLeydig Cell Theca Cell Sertoli Cell Granulosa CellCell T and A Inhibin InhibinT and A Inhibin Inhibin ↑↑↑↑ ── ── ++++ ++++ ↑↑────────────────────────── ↑↑ ↑↑ ↑↑↑↑──
  13. 13. LeptinLeptin  The term leptinThe term leptin (anti-obesity hormone)(anti-obesity hormone) was takenwas taken from the Greek word leptos meaning thin and isfrom the Greek word leptos meaning thin and is descriptive of the hormone in the body which hasdescriptive of the hormone in the body which has weight reducing effect.weight reducing effect.  Leptin plays a permissiveLeptin plays a permissive (tonic mediator)(tonic mediator) ratherrather than a casual role in timing this process. When bodythan a casual role in timing this process. When body energy reserves rise above a critical level, bloodenergy reserves rise above a critical level, blood leptin increases to threshold concentration signalingleptin increases to threshold concentration signaling to CNS that the body can support sexual function.to CNS that the body can support sexual function. Leptin does not appear to act as a triggerLeptin does not appear to act as a trigger (phasic(phasic mediator)mediator) to time the initiation of pubertyto time the initiation of puberty ..
  14. 14. DISORDERS OF PUBERTYDISORDERS OF PUBERTY  Disorders of puberty may be classified into,Disorders of puberty may be classified into, precocious puberty where secondary sexprecocious puberty where secondary sex characteristics appear before the age of 9 yearscharacteristics appear before the age of 9 years in boys and delayed puberty when no signs ofin boys and delayed puberty when no signs of puberty do not take place by the age of 14puberty do not take place by the age of 14 years or passing of five years between theyears or passing of five years between the initial and complete development of genitalia .initial and complete development of genitalia . Contrasexual development which may beContrasexual development which may be caused by rare estrogen-secreting adrenalcaused by rare estrogen-secreting adrenal tumors in boystumors in boys (Richard et al, 1999)(Richard et al, 1999) ..
  15. 15. PRECOCIOUS PUBERTYPRECOCIOUS PUBERTY  There are many causes of precocious puberty;There are many causes of precocious puberty; genetic defects, GnRH dependant precociousgenetic defects, GnRH dependant precocious pubertypuberty (central causes)(central causes) ,, GnRH independantGnRH independant precocious pubertyprecocious puberty (peripheral causes)(peripheral causes) andand contrasexual developmentcontrasexual development (Fahmy, 2000)(Fahmy, 2000) ..  Central precocious puberty represents fourCentral precocious puberty represents four fifths of the total number of patients withfifths of the total number of patients with precocious puberty and is much moreprecocious puberty and is much more frequently seen in girls than in boysfrequently seen in girls than in boys ..
  16. 16.  The earliest evidence of precocious puberty isThe earliest evidence of precocious puberty is testicular enlargement. Growth of the penis,testicular enlargement. Growth of the penis, scrotum and appearance of pubic hair typicallyscrotum and appearance of pubic hair typically occur at least a year after testicularoccur at least a year after testicular enlargement. Accelerated linear growth (theenlargement. Accelerated linear growth (the pubertal growth spurt) occurs later in thepubertal growth spurt) occurs later in the course of male pubertycourse of male puberty (Nathan and Palmert,(Nathan and Palmert, 2005)2005) ..
  17. 17.  The size of the testicles is important in the differentialThe size of the testicles is important in the differential diagnosis. In young boys, a testicular sizediagnosis. In young boys, a testicular size characteristic of pubertal growth indicates centralcharacteristic of pubertal growth indicates central precocious puberty. Asymmetric enlargement may beprecocious puberty. Asymmetric enlargement may be due to a testicular tumor such as a Leydig celldue to a testicular tumor such as a Leydig cell granuloma or to the McCune-Albright syndrome andgranuloma or to the McCune-Albright syndrome and necessitates examination by testicularnecessitates examination by testicular ultrasonography. Very small testicles suggest non-ultrasonography. Very small testicles suggest non- classic congenital adrenal hyperplasia, whereasclassic congenital adrenal hyperplasia, whereas moderate bilateral enlargement is present in boys withmoderate bilateral enlargement is present in boys with familial male-limited precocious puberty or withfamilial male-limited precocious puberty or with chronic gonadotropin producing tumorschronic gonadotropin producing tumors (Carel et al,(Carel et al, 2004)2004) ..
  18. 18. McCune-ALBRIGHT SYNDROMEMcCune-ALBRIGHT SYNDROME  McCune-Albright syndrome is characterizedMcCune-Albright syndrome is characterized classically by the clinical triad of cutaneousclassically by the clinical triad of cutaneous hyperpigmentationhyperpigmentation (café-au-lait spots)(café-au-lait spots) ,, polyostotic fibrous dysplasia and precociouspolyostotic fibrous dysplasia and precocious puberty. The condition occurs distinctly lesspuberty. The condition occurs distinctly less frequently in boys than girls. The skeletal andfrequently in boys than girls. The skeletal and cutenous involvement in MAS is commonlycutenous involvement in MAS is commonly asymmetrical and the skin lesions often stopasymmetrical and the skin lesions often stop abruptly at the midlineabruptly at the midline (Kakarla and(Kakarla and Bradshaw, 2003)Bradshaw, 2003) ..
  19. 19.  Café-au-lait spots large, irregular and serratedCafé-au-lait spots large, irregular and serrated outlines. Common sites of occurrence include, theoutlines. Common sites of occurrence include, the forehead, neck, upper back, shoulder, upper arm,forehead, neck, upper back, shoulder, upper arm, lumbosacral region and the buttocks .lumbosacral region and the buttocks .  Polyostotic fibrous dysplasia may occur in any bone,Polyostotic fibrous dysplasia may occur in any bone, including long bones, the skull and pelvis, resultingincluding long bones, the skull and pelvis, resulting in pathologic fracture or severe disfigurement.in pathologic fracture or severe disfigurement. Malignant degeneration occurs in 4% of lesionsMalignant degeneration occurs in 4% of lesions (Carel et al, 2004)(Carel et al, 2004) ..
  20. 20. CONGENITAL ADRENALCONGENITAL ADRENAL HYPERPLASIAHYPERPLASIA  The term congenital adrenal hyperplasiaThe term congenital adrenal hyperplasia (CAH)(CAH) or adrenogenital syndromeor adrenogenital syndrome encompasses several autosomal recessiveencompasses several autosomal recessive disorders that have in common complete ordisorders that have in common complete or partial deficiency of an enzyme involved inpartial deficiency of an enzyme involved in cortisol or aldosterone synthesiscortisol or aldosterone synthesis (Wilson et al,(Wilson et al, 2005)2005) .. CAH is most commonly due toCAH is most commonly due to deficiency of 21-hydroxylase enzymedeficiency of 21-hydroxylase enzyme (90% of(90% of cases)cases) ..
  21. 21. Signs and symptoms of mild CAHSigns and symptoms of mild CAH  ChildrenChildren • Moderate to severe recurrent sinus or pulmonary• Moderate to severe recurrent sinus or pulmonary infectionsinfections • Severe acne• Severe acne • Hyperpigmentation, especially of the genitalia• Hyperpigmentation, especially of the genitalia • Tall for age• Tall for age • Early onset of puberty• Early onset of puberty  AdultsAdults • Childhood history as defined above• Childhood history as defined above • Syncope or near-syncope• Syncope or near-syncope • Shortened stature compared with either parent• Shortened stature compared with either parent • Hypotension (21-hydroxylase deficiency)• Hypotension (21-hydroxylase deficiency) • Hypertension (11-ß hydroxylase deficiency)• Hypertension (11-ß hydroxylase deficiency)
  22. 22. Approach to the treatment of classic congenital adrenal hyperplasia (Merke and Gutter, 2001).
  23. 23. DELAYED PUBERTYDELAYED PUBERTY  Causes of delayed puberty are classified into:Causes of delayed puberty are classified into: hypogonadotropic hypogonadism (secondary),hypogonadotropic hypogonadism (secondary), hypergonadotropic hypogonadism ( primary )hypergonadotropic hypogonadism ( primary ) and constitutional delay of growth andand constitutional delay of growth and maturationmaturation (Reiter and Lee, 2002)(Reiter and Lee, 2002) ..
  24. 24. KALLMANN'S SYNDROMEKALLMANN'S SYNDROME  Kallmann's syndrome is a congenital disorder thatKallmann's syndrome is a congenital disorder that occurs in about 1/7500 male births .occurs in about 1/7500 male births .  Kallmann's syndrome is associated not only withKallmann's syndrome is associated not only with delayed sexual maturation but also with such findingsdelayed sexual maturation but also with such findings as midline facial defects, neurosecretory hearing loss,as midline facial defects, neurosecretory hearing loss, ansomnia or hyposmia with aplasia or hypoplasia ofansomnia or hyposmia with aplasia or hypoplasia of the olfactory bulb and sulci and mirror movementsthe olfactory bulb and sulci and mirror movements (Synkinesia)(Synkinesia) ..
  25. 25. Model for the aetiology of Kallmann's syndrome
  26. 26. KLINEFELTER SYNDROMEKLINEFELTER SYNDROME  Klinefelter syndrome or seminiferous tubularKlinefelter syndrome or seminiferous tubular dysgenesis occurs with a frequency of about 1/500-dysgenesis occurs with a frequency of about 1/500- 1000. KS is usually diagnosed in adolescence or1000. KS is usually diagnosed in adolescence or young adulthood and is characterized byyoung adulthood and is characterized by gynecomastia; a wide range of androgengynecomastia; a wide range of androgen inadequency, small, firm testes with seminiferousinadequency, small, firm testes with seminiferous tubules hyalinization; absence of spermatogenesistubules hyalinization; absence of spermatogenesis and probably normal number of leydig cells, althoughand probably normal number of leydig cells, although with abnormal karyotype .with abnormal karyotype .
  27. 27.  OverOver (80%)(80%) of such males haveof such males have 47, XXY47, XXY chromosomal complement . Studies suggestchromosomal complement . Studies suggest that males who are mosaic for athat males who are mosaic for a supernumerary X (XY/XXY) may show lesssupernumerary X (XY/XXY) may show less pathology and have a potentially betterpathology and have a potentially better prognosis with respect to fertilityprognosis with respect to fertility (10%)(10%)..  Klinefelter syndrome is among the mostKlinefelter syndrome is among the most frequent genetic causes of human infertilityfrequent genetic causes of human infertility affecting approximatelyaffecting approximately ( 11% )( 11% ) ofof azoospermic andazoospermic and ( 4% )( 4% ) of infertile menof infertile men (Wikstörm et al, 2004)(Wikstörm et al, 2004) ..
  28. 28.  The azoospermia characteristic of adult malesThe azoospermia characteristic of adult males with Klinefelter syndrome evolves fromwith Klinefelter syndrome evolves from diminished spermatogonia during childhooddiminished spermatogonia during childhood years to absence of sperm by late adolescence.years to absence of sperm by late adolescence. Boys in whom sperm is present during lateBoys in whom sperm is present during late adolescence are highly likely to haveadolescence are highly likely to have chromosomal mosaicaismchromosomal mosaicaism ..

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