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Causes, Diagnosis, Syndromes, Clinical Presentations And Treatment Of Delayed Puberty And Sexual Precocity

Updated on February 12, 2014

Laurence-Moon-Biedl Syndrome


Delayed Puberty

Delayed puberty and sexual precocity are of huge significance in the sexual development of a child. These disorders are due to gonad hormonal malfunctions.

Delayed Puberty

When sexual maturation is delayed beyond 16 years of age, the condition should be fully investigated. Delayed puberty may be constitutional (idiopathic), or secondary to systemic disease or hormonal disorders.


  1. Idiopathic delay of growth and development.
  2. Neuroendocrine disorders such as Tumours of the central nervous system (craniopharyngioma, pinealoma); Congenital malformations of the CNS (Hypopituitarism, Kallman’s syndrome, Laurence-Moon-Biedl syndrome, Prader Willi syndrome and Functional gonadotropin deficiency).
  3. Chronic systemic disease such as malnutrition, anorexia nervosa, hypothyroidism, Debilitating illnesses like uncontrolled diabetes, renal failure, hepatic cirrhosis.
  4. Primary gonadal failure such as chromosomal disorders (Klinefelter;s and Turner’s syndromes and their variants), developmental agenesis (anorchia, cryptorchism) and other causes of primary gonadal failure.

Syndromes of Delayed Puberty

Kallmann’s syndrome: Isolated gonadrotropin deficiency associated with partial or total loss of smell is known as Kallmann syndrome. The olfactory bulb is not developed. There is failure of release of LH/FSH-RH from the hypothalamus. Menstruation and fertility can be restored by treatment with LH/FSH-RH or FSH and HCG.

Laurence-Moon-Biedl Syndrome: In this rare congenital disorder which is characterized by obesity, dwarfism, hypogonadism, mental retardation, retinitis pigmentosa and polydactyly, a strong familial tendency is noticeable. It is inherited as autosomal recessive.

Prader Willi Syndrome: In this rare anomaly, intrauterine and postnatal hypotonia, obesity, mental deficiency and hypogonadism are seen. The hands and feet are small and there may be mild retardation of growth.

Prader Willi Syndrome


Sexual Precocity

The appearance of secondary sexual characters before 8 years of age in boys and 6 years in girls constitute sexual precocity. True precocious puberty is due to premature maturation of pituitary gonadal axis. Disorders of puberty may also result from increased secretion of testosterone or estrogen, independent of pituitary control. This leads to incomplete isosexual precocity.


  1. True precocious puberty (both sexes):
    1. Idiopathic type,
    2. CNS tumours in the region of the hypothalamus
    3. Other CNS disorders, e.g encephalitis, trauma, tuberculoma, Albright syndrome, hydrocephalus, neurofibromatosis
    4. Severe primary hypothyroidism
    5. Drugs, e.g. anabolic steroids, gonadotropins and androgens.
    6. Incomplete isosexual precocity in boys: Ectopic hormone secretion, eg. Hepatomas, chorionepitheliomas, congenital virilising adrenal hyperplasia (21 or 11 hydroxy lase defects), adrenal carcinomas, Leydig cell adenoma, and drugs- androgens, anabolic steroids.
    7. Incomplete isosexual precocity in girls: Ovarian diseases, e.g follicular cycts, granulose cell tumour, theca cell tumour, gonadoblastoma, gonadotropin-producing tumours, eg. Teratoma, hepatoma and drugs-estrogens, gonadotropins.
    8. Heterosexual precocity (paradoxical puberty): Feminisation in males, adrenal neoplasms, Iatrogenic- estrogen therapy, virilisation in females, congenital adrenal hyperplasia, virilising adrenal or ovarian neoplasm, Cushing’s syndrome and drugs- androgens, anabolic steroids.

Diagnosis: Precocious puberty leads to increase in somatic growth and premature fusion of epiphysis before full growth is reached. This may result in dwarfism. In contrast to somatic and sexual growth, the psychosexual and intellectual development correspond only to the chronological age.

Differential diagnosis: Familial incidence of sexual precocity should suggest the possibility of true idiopathic precocious puberty, congenital adrenogenital syndrome or neurofibromatosis. Endocrine tumours lead to rapid development of sexual maturation.

Albight’s Syndrome (Polyostotic fibrous dysplasia of bone): This is a rare disorder which may be associated with precocious puberty due to inappropriate secretion of gonadotropic hormone. Other abnormalities include irregular pigmentation and dysplasia of several bones.

Treatment: Drugs inhibiting gonadotropins are partly successful in avoiding premature fusion of piphyses and arresting sexual precocity. Drugs like medroxyprogesterone acetate 100 mg given intramuscularly once a week or 200- 300 mg as depot injections, suppress gonadotropin secretion. Chlormadinon acetate given orally in diseases of 5 to 15mg daily suppresses feminization and to a lesser extent the effects of testosterone, when given in doses of 20- 50 mg daily. Danazol which is a synthetic derivative of ethisterone, inhibits circulating levels of FSH and LH. It is useful in the treatment of gynecomastia and abnormal breast enlargement in females.

© 2014 Funom Theophilus Makama


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