When the abnormality consists of an imperforate hymen or transverse vaginal septum only, surgical restoration can be accomplished relatively simply. In girls with a normal karyotype and a genital tract anomaly, examination under anesthesia and diagnostic laparoscopy should be undertaken to delineate the extent of the defect. Such disorders, however, almost never occur together with completely normal pubertal development. In the absence of a mass or cyclic pain, karyotyping is indicated in girls with evidence of an abnormal genital tract to rule out disorders of sexual differentiation ( Chapter 220). Constrained to the uterine cavity, the effluent causes hematometra and a large abdominal mass.
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Free in the abdominal cavity, the effluent may cause endometriosis. In the absence of a normal outflow tract, however, the menstrual effluent is retained and may or may not escape into the abdominal cavity. Normal ovarian function still induces endometrial growth and shedding after menarche if the uterus is normal. The HOX genes, a family of regulatory genes that encode transcription factors, are essential for proper development of the müllerian tract.Ī müllerian duct anomaly is suggested by (1) normal levels of serum gonadotropins and steroids, (2) an abnormal outflow tract, (3) a history of cyclic abdominal pain with or without a palpable mass, and (4) normal development of secondary sex characteristics. Family aggregates of the most common disorders of müllerian differentiation in females-müllerian aplasia and incomplete müllerian fusion-do occur and are best explained by polygenic or multifactorial inheritance.
Although aplasia generally involves all the müllerian duct derivatives, defects may involve only a single part of the distal genital tract.
The anomalies associated with amenorrhea vary in severity from an imperforate hymen to complete aplasia of all müllerian duct derivatives, with vaginal atresia. Most do not cause amenorrhea, and many do not impair reproduction. Congenital malformations of the müllerian ducts are uncommon, occurring in 0.02% of all women. When pubertal development progresses normally but menstruation does not begin, an abnormality in the genital tract should be considered.
Because of the anxiety generated by delayed puberty, some evaluation is always indicated regardless of the age of the patient. 13 Ovarian failure, congenital absence of the uterus and vagina, and constitutional delay constitute about two thirds of cases in large series. Girls who have no evidence of thelarche by age 13 or who fail to undergo menarche by age 15 have delayed puberty and should be evaluated. Lee Goldman MD, in Goldman-Cecil Medicine, 2020 Delayed Puberty 1,2 Whereas a postponement of pubertal onset often represents a benign variation of normal development (discussed in the following section), arrest of puberty once it has begun is almost always abnormal and indicative of an underlying pathologic condition.
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Progression of puberty denotes the development of secondary sexual characteristics according to a predictable and sequential series of stages first described by James Tanner. Girls are considered to have delayed puberty if they reach 13 years of age without evidence of pubertal changes in boys, the analogous age is 14 years. Discovery of the molecular genetic basis for both benign and pathologic forms of delayed puberty will continue to offer tremendous insight into the biology of human reproduction. A large array of disorders may manifest as delayed puberty, necessitating a diagnostic process that incorporates patience, astute observation, and consideration of multiple potential etiologies. Although its outward manifestations are subtle, delayed puberty is nonetheless profoundly distressing to the adolescents affected by it, who continually compare themselves to their peers and find themselves lacking. Eugster, in Endocrinology: Adult and Pediatric (Seventh Edition), 2016 Definitionĭelayed puberty refers to the absence of pubertal onset by the expected age or, once puberty has commenced, failure of appropriate progression. Obesity and hypogonadotropic hypogonadism ( LEP, LEPR, and PC1) syndromesĪdapted from Sperling MA: Sperling pediatric endocrinology, ed 4, Philadelphia, 2014, Elsevier, 697-733. HPG axis development (DAX1, SF-1, HESX-1, LHX3, and PROP-1) Isolated hypogonadotropic hypogonadism (KAL1, GNRHR, GNRH1, GPR54, FGFR1, FGF8, PROK2, PROKR2, TAC3, TACR3, HS6ST1, NELF, and CHD7) Kallmann syndrome (KAL1, FGFR1, PROK2, PROKR2, FGF8, HS6ST1, and CHD7) Sertoli cell only syndrome (Del Castillo syndrome) 17-hydroxysteroid dehydrogenase deficiency (HSD17B3) Congenital lipoid adrenal hyperplasia (StAR)
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