Features of Turner syndrome among a group of Cameroonian patients

Wonkam, Ambroise; Veigne, Sandra W.; Abass, Ali K; Um, Suzanne Ngo; Noubiap, Jean Jacques; Mbanya, Jean Claude; Sobngwi, Eugène

doi:10.1016/j.ijgo.2014.11.025

Cited by 10 publications

(5 citation statements)

References 16 publications

(22 reference statements)

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“…The prevalences of low posterior hairline, dysmorphic palate, pterygium colli, low set ears and micrognathia are 73%, 68%, 38%, 37% and 24%, respectively (Makishima et al, ). Low posterior hairline and pterygium colli are typical of TS and have been reported in other publications to occur more frequently, up to 85% and 60% respectively (as cited by Wonkam et al, ).…”

Section: Otolaryngolical/craniofacial/skeletalmentioning

confidence: 58%

Anatomy of turner syndrome

et al. 2016

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Turner syndrome (TS) is one of the most common sex chromosome abnormalities and results from total or partial monosomy of the X chromosome. It occurs in 1 in 2000 newborn girls and is also believed to be present in a larger proportion of conceptuses. There are various anatomic anomalies that have been associated with TS and the consequences of late recognition of these anomalies can be devastating. Aortic dilation and dissection occur at increased rates in TS patients and contribute to the decreased life expectancy of these patients. Such cases have prompted the need for early identification and continuous monitoring. Other anatomic variations increase morbidity in this population, and negatively impact the social and reproductive aspects of their lives. In this review, we summarize the cardiovascular, neurological, genitourinary, otolaryngolical, craniofacial, and skeletal defects associated with TS. To elucidate these morphological variations, novel illustrations have also been constructed. Clin. Anat. 29:638-642, 2016. © 2016 Wiley Periodicals, Inc.

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Section: Otolaryngolical/craniofacial/skeletalmentioning

confidence: 58%

Anatomy of turner syndrome

et al. 2016

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“…3 This result was in line with a study by Wonkam et al, which found that the average age of patients with Turner syndrome who came for treatment for the first time was 18.4 ± 2.8 years old. 9 The delay that occurred in the patient in this case report was probably due to a lack of knowledge and attention to children's growth and development because the patient came from a family with a low level of education and lives in a rural part of Indonesia.…”

Section: Discussionmentioning

confidence: 84%

Turner syndrome and tuberculosis in adolescent: a case report

Trisnawan¹,

Sindhu²,

Hsieh³

et al. 2022

Bali Med J.

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Background: Turner syndrome is characterized by abnormality of one X chromosome. Those with Turner syndrome are at risk of developing tuberculosis infection due to decreased immune function. Case: A 17-year-old girl came with complaints of short stature, amenorrhea, and no signs of secondary sexual growth. She also felt weak. On physical examinations, she weighed 24 kg, and her height was 119 cm. Her conjunctiva looked pale. She had a low set hairline, small mandible, short 4th metacarpal, and wide-spaced nipple. Her breast and genitalia did not grow (1st stage of Tanner classification). There was a lesion between her breasts. Laboratory results showed Hemoglobin 7 g/dL, MCV 62,6 fL, MCH 18,2 pg, MCHC 29 g/L, FSH >170 IU/L, LH 95,3 IU/L, Estradiol 11 pg/mL, Iron Ferrozine 7 mg/dL, TIBC 186 μg/dL, and Ferritin 50 ng/mL. Her Mantoux test showed induration with a diameter of 20-23 mm, and the Xpert MTB-RIF test showed low detection of MTB. Her bone age was appropriate for a 13-year-old girl. Histopathology test of her lesion showed chronic granulomatous inflammation. Her chromosome analysis showed Mos 45,X(56)/46,XX(44). She was diagnosed with Turner syndrome and tuberculosis. She received Progynova® 2 mg every 24 hours for 21 days, stopped for 10 days, and continued again for 21 days. She also got anti-tuberculosis drugs (pediatric regime). Conclusion: The clinical spectrums of Turner syndrome vary widely. Decreased immune function in Turner syndrome can lead to infections such as tuberculosis. Early diagnosis and treatment can prevent further morbidity.

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“…This age is lower than ours. However, another study conducted in our setting by Wonkam et al found a mean age 18.4 ± 2.8 years at diagnosis of Turner syndrome in a population of patients followed in Yaoundé [13]. Although both studies were conducted in Cameroon, the age difference could be due to the fact that Wonkam et al worked on a pediatric population.…”

Section: Discussionmentioning

confidence: 90%

The clinical and psychological profiles of patients with hypogonadism, followed in 3 reference hospitals of Cameroon: an observational study

Etoga¹,

Akwa²,

Boli³

et al. 2019

Pan Afr Med J

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Introduction Hypogonadism refers to a syndrome that results from failure of gonads to function properly. The main concern is considerable rise in morbidity, as shown by increased cardiovascular risk, infertility, osteoporosis and above all, the psychological impact on the life of the patients with hypogonadism. Judicious steroid replacement and culturally-sensitive psychological support before and during steroid therapy remains the key tool in the management of this condition. The present study aimed at filling the knowledge gap on hypogonadism in Cameroon. Methods We conducted a cross-sectional study over a period of 12 months, in 3 reference hospitals of Cameroon. We included males and females diagnosed with hypogonadism, aged 16 to 50 years and 16 to 45 years respectively. After a complete clinical examination, patients were invited to fill the modified middlesex hospital questionnaire for psychoneurotic evaluation. Results We recruited 59 patients with a sex ratio of 1:1. The mean age of the females and males were 27.7 ± 9.1years and 30.8 ± 11.7 years respectively. Normosmic Idiopathic Hypogonadotropic Hypogonadism (NIHH) was the most common presentation. Compulsive obsessive traits, phobic anxiety and hysterical trait, were most pronounced in these patients. Testosterone titers significantly correlated positively with testicular size and negatively with body mass index (BMI). A significant positive correlation was found between the testicular volumes measured with ultrasound (US) and with the orchidometer. Conclusion Normosmic idiopathic hypogonadotropic hypogonadism is the most common presentation of hypogonadism in the study population. There is a significant psychosocial impact requiring further investigation and attention.

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Features of Turner syndrome among a group of Cameroonian patients

Abstract: Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome.

Cited by 10 publications

References 16 publications

Anatomy of turner syndrome

Anatomy of turner syndrome

Turner syndrome and tuberculosis in adolescent: a case report

The clinical and psychological profiles of patients with hypogonadism, followed in 3 reference hospitals of Cameroon: an observational study

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