Diagnosis of turner syndrome in two mothers following their daughters' diagnosis
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LETTER TO THE EDITOR
Diagnosis of turner syndrome in two mothers following their daughters’ diagnosis Ma Pilar Bahı´llo-Curieses1 • Sofı´a Galbis-Soto1 • Ma Concepcio´n Mombiedro-Arizmendi1
Received: 30 November 2015 / Accepted: 21 January 2016 Ó Springer Science+Business Media New York 2016
Turner syndrome (TS) is a well-defined sex-chromosomal disorder characterized by short stature, gonadal dysgenesis, cardiovascular and renal abnormalities. Approximately, half of all patients have a 45, X0 karyotype and the remainder are mosaics for a cell line containing a second sex chromosome, usually a normal or structurally abnormal X. Even though TS is sporadic by nature, hereditary forms have occasionally been documented [1]. We report the case of two different families where two daughters inherited a deletion in X chromosome from their non-diagnosed mothers. The first proband was referred at 11.6 years of age for evaluation of exogenous obesity. She was the first child of unrelated parents. Mother’s height was 152 cm (-1.82 SD) (armspan 151 cm, sitting height/height = 0.55 ([95th percentile); father’s height was 173 cm (-0.49 SD), both of them with normal pubertal development. The patient was born at term after an unremarkable pregnancy and delivery, with normal length and weight. Physical examination: weight 48.7 kg, height 134.8 cm (-2.25 SDS), BMI 26.8 kg/m2 (?2.1 SDS), armspan 133.5 cm, sitting height/height = 0.56 (95th percentile), short bilateral 4th metacarpals, bilateral mild cubitus valgus, high arched palate, and no other typical TS features. She exhibited ageappropriate pubertal development such as Tanner II breast and Tanner II pubic hair. Routine laboratory tests were normal, as were endocrine studies for low-normal short
& Ma Pilar Bahı´llo-Curieses [email protected] 1
Department of Pediatric Endocrinology, Hospital Clı´nico Universitario, Avenida Ramon y Cajal, 3, 47005 Valladolid, Spain
stature. Gonadotropin levels were appropriate for age and pubertal development. Peripheral blood karyotype was 46 XX. Molecular genetic studies of SHOX and PAR1 region identified a large deletion in SHOX region, compatible with TS. High resolution karyotype carried out at that moment showed a female karyotype with 46 chromosomes in disequilibrium; one chromosome X of maternal origin has a partial monosomy of short arms and a partial trisomy of long arms (46 X, der (X)del (X)(p22.1) dup (X)(q26)). Cardiac evaluation and renal ultrasound had been normal. Growth hormone therapy was begun at age 11.9 years and is still ongoing. Her puberty is progressing normally. A karyotype of her mother revealed identical alteration and she did not show any clinical features of TS except multiple pigmentari nevi and sitting height/height ratio greater than 95th percentile. The second proband was referred for evaluation of prenatal diagnosis of TS (46 X, del (X) (p21)). The patient was the first child of non-consanguineous parents. Mother’s height was 148 cm (-2.42 SD), with normal body proportions; father’s height was 170 cm (-
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