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Título :	Spontaneous puberty in Mexican Turner syndrome patients
Creador:	Carrillo Claudia
Nivel de acceso:	Open access
Descripción :	Objective Describe karyotype and clinical characteristics of patients with Turner syndrome who presented spontaneous puberty development. Cases description From a total of 137 Turner patients only five presented spontaneous puberty. Case 1: Mother’s karyotype 46,Xt (X;20), The karyotype of the patient was 45,X/46,Xp-. Thelarche 12 years 10 months, pubarche 15 years, and menarche at 16 years 7 months, with breast Tanner-4 and pubic-2. At 17 years menstrual irregularities, followed by secondary amenorrhea and elevation of LH and FSH. Case 2: Karyotype shows 45,X/46,X,rX, and hers mother has a normal karyotype. Thelarche and pubarche began at 10 years 6 months and menarche at 13 years 5 months, with mammary and pubic Tanner 4. One year lather she began with oligomenorrhea and no ovulation menstrual cycles. Case 3: Karyotype 47,XXX/45,X. Mother’s karyotype 46,XX/45,X/47,XXX, Pubarche and thelarche at 9 years and menarche at 10 years 8 months with breast and pubic Tanner-3. Currently she has regular menstrual cycles and progesterone levels for a physiological ovulation. Case 4: Karyotype 46,XX45,X/47,XXX. Maternal karyotype is normal. Thelarche and pubarche at 9 years and menarche at 10, with Tanner breast-3 and pubic-2. Her menstrual cycles are regular and ovulation was hormonally present. Case 5: Karyotype was 45,XO/47,XXX. Mother’s karyotype normal. Thelarche 10 years, pubarche 11.5 years and menarche 12 years 2 months with breast Tanner stage-4 and pubic-3. Her menstrual cycles are regular and hormonal sequence during menstrual cycle is normal. Results All patients had karyotype mosaics, with an average onset of menarche at 150.2 months, thelarche at 120.2 months, and pubarche at 140.4 months. During puberty height increaseded 15 ±2 cm and final height was 17±3 cm below familiar epigenetic stature. None of the 5 patients have webbed neck, cardiac or renal malformations, neonatal feet or hands lymphedema, or shield-shaped chest, but all present high palate, shortening of 4th metacarpal bone, moderate telethelia, moderate valgus of elbows, and multiple nevi. Conclusions Only 3.65% of our Turner girls presented spontaneous puberty, a percentage that is significantly lower than the reported in other studies. Time elapsed from thelarche to menarche was similar than observer in normal population, and age of onset of menarche, thelarche and pubarche is similar to the general population
Colaborador(es) u otros Autores:	Gómez Cecilia Altamirano Nelly Valderrama Alejandro Montesinos Hortensia Robles Carlos Gil Julian Goldaracena Francisco Zúñiga Eva García Victor Figueroa Daniel Ruiz María de la Luz Calzada-León Raúl
Fecha de publicación :	2009
Tipo de publicación:	Artículo
Formato:	pdf
Identificador del Recurso :	10.1159/000239668
Fuente:	Horm Res 72(S3):480
URI :	http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2825
Idioma:	eng
Aparece en las colecciones:	Artículos

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