Treatment of delayed puberty and/or primary amenorrhea requires precise etiological diagnosis, determination of bone age and evaluation of the psychological consequences to the patient and her family in order to evaluate the most appropriate way…

Sexual ambiguities have been diagnosed during the neonatal period.
However, pubertal development may be associated with progressive hyperandrogenia or virilization including hirsutism, seborrhea, severe acne, alopecia and hyperclitoridism. Clinical hyperandrogenia must be specified by biological…

In cases of partially or completely developed secondary sexual characteristics, patients will refer to the physician for primary amenorrhea at an age of 14 or 15 years. Gonadotropin levels are…

Delayed puberty as described earlier has a statistical definition based on epidemiological studies. Onset of development, which includes tightly related growth and pubertal development, has a variable timing that depends…

Impaired Pulsatile Secretion of LHRH
In absence of anosmia, the Kal gene is not involved, as demonstrated by Quinton et al.. However, familial histories have suggested the role of two different autosomal genes,…

Primary gonadotropin deficiency is associated with very low levels of FSH and LH, concordant bone age, normal stature -  unless multiple pituitary deficiencies including GH are associated -  and normal karyotype. Response to LHRH…

-  Histiocytosis X (Hans-Schüller-Christian disease) is characterized by multiple organ infiltration (skin, bone, viscera) by histiocytic cells. Infiltration of the pituitary stalk and hypothalamus is possible with diabetes insipidus and…

Prepubertal girls treated with radiation therapy or chemotherapy may present gonadal failure with delayed puberty or primary or secondary amenorrhea.

In cases of abdominal or pelvic radiotherapy, the ovaries must be surgically removed…

Organic Direct Gonadotropin Deficiency
To establish etiological diagnosis, complete medical history and clinical exam are associated with systematic computed tomography (CT) or magnetic resonance imaging (MRI) scans of the hypothalamic and pituitary areas, as…

Ovarian dysgenesis with a normal 46,XX karyotype is defined by reduced or altered ovaries, a female phenotype, and normal stature with no turnerian malformations. Diagnosis is suggested by primitive hypergonadotropic hypogonadism with…

Actually, after this clinical exam and these simple complementary investigations, the physician often has a presumptive diagnosis. The easiest case is when FSH is elevated (hypergonadotropic hypogonadism). In this case the work-up will…

Initial evaluation, based on a detailed history and complete clinical exam, will establish undeveloped, partially or completely developed secondary sex characteristics and precise growth development, look for indications of etiology and assess the…

Age at onset of puberty varies greatly among individuals and populations and seems to be influenced by both genetic and environmental factors. It follows an approximately normal or gaussian distribution. In girls, the…

Increase in the pulsatile release of LHRH is a necessary condition for puberty onset, as demonstrated 22 years ago by Knobil et al.  in rhesus monkeys. Appropriate intermittent pulsatile secretion of LHRH stimulates…

Developmental changes during puberty in girls occur over a period of 3 - 5 years, usually between 9 and 14 years of age. They include the occurrence of secondary sex characteristics beginning with breast development,…