BACKGROUNDMonosomy 1p36 is the most common subtelomeric microdeletion syndrome. 1 -3 It is associated with congenital hypotonia and feeding diffi culties, psychomotor delay, usually severe, with poor expressive language and typical craniofacial phenotype with midface hypoplasia, deep-set eyes and straight eyebrows, broad nasal root and bridge and pointed chin. Other features commonly described are behavioural disorders such as hyperphagia and self-injuring, seizures, structural brain anomalies, congenital heart disease and cardiomyopathy, orofacial clefting, deafness, visual anomalies (strabismus, refractive errors), genital anomalies and hypothyroidism. Generalised obesity associated with hyperphagia is frequently described as Prader-Willi like phenotype. 2 4 Management of patients requires multi-disciplinary approach with neurodevelopment assessment including hearing and vision, cardiac evaluation, endocrine follow-up of thyroid function and obesity and support by physical and occupational therapy. 1 -3 CASE PRESENTATIONA 9-year and 5-month boy was referred to the paediatric endocrinology clinics for evaluation of morbid obesity ( fi gure 1 ). He was the fi rst child of consanguineous parents, the father had psoriatic arthritis and the mother was obese. Several family members were affected with γ-sarcoglicanopathy; genetic testing for previous identifi ed familial mutation in SGCG gene revealed that father was carrier and the mother was not. The pregnancy was irregularly monitored. He had a preterm vaginal delivery at 36 weeks of gestation, the Apgar score was 9/10 and the newborn somatometry was adequate for gestacional age (weight 2480 g, 25-50th centile; length 42 cm, 5th centile; head circumference 33 cm, 50th centile).Psychomotor developmental delay and facial dysmorphism were noticed in the fi rst month of life. Hypertension was diagnosed at 5 years and treated with captopril. He was submitted to an adenotonsillectomy because of obstructive sleep apnoea. He had a history of recurrent respiratory infections and at 5 years he had an admission at
Turner syndrome is a common genetic disorder with an incidence of 1 in 2500 live births. Spontaneous fertility is rare in such patients and is most likely in women with mosaicism or very distal Xp deletions. The authors report an unusual case of familial Turner syndrome in a woman with mosaicism 45,X/46,Xdel(Xp) karyotype with three documented spontaneous pregnancies, which resulted in two daughters with 46,Xdel(X)(p11.4)mat karyotype and a healthy son. The mother was first diagnosed by the age of 11 and did not receive contraceptive medication, due to information that she would be infertile. Both daughters were referred to an endocrinology unit and are now under growth hormone treatment, and have been growing in the 3rd percentile. This family illustrates the complexity and difficulties in counseling, follow-up and treatment in Turner syndrome, namely referring to a tertiary center, fertility and treatment such as growth hormone and hormonal replacement, due to the heterogeneity of the clinical spectrum.
Recensão crítica de FERNANDO PESSOA/BERNARDO SOARES. LIVRO DO DESASOCEGO. Tomo I e Tomo II. Edição crítica de JERÓNIMO PIZARRO. Lisboa, Imprensa Nacional-Casa da Moeda, 2010. 1095 páginas. ISBN: 9789722718493.
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