Anti‐Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy

Hamza, Rasha T.; Mira, Marwa F; Hamed, Amira; Ezzat, Treiz; Sallam, Mahmoud T.

doi:10.1002/ajmg.a.40473

Cited by 26 publications

(17 citation statements)

References 18 publications

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“…Our results remain in accordance with another studies with the frequency of spontaneous puberty in TS patients of about 50% [4,19]. In contrast there are also authors noticing lower percentage of spontaneous puberty in this group of patients [23][24][25]. Undoubtedly recognition of non-full-blown forms of TS will be growing thanks to the availability of karyotyping, so it may reveal noticeably increased prevalence of spontaneous puberty.…”

Section: Discussionsupporting

confidence: 92%

Evaluation of the usefulness of antymüllerian hormone and inhibin B as markers of ovarian activity in patients with Turner syndrome – preliminary results

Ruszała

Wójcik

Starzyk

2020

pedm

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Introduction: Spontaneous puberty occurs in 30% of patients with Turner Syndrome. Its absence is an indication for hormone replacement therapy (HRT). No reliable markers of spontaneous puberty have been defined to date. Aim of the study: To evaluate the usefulness of antymüllerian hormone (AMH) and inhibin B assessment in predicting ovarian function and spontaneous puberty in girls with TS. Material and methods: The study included 35 TS patients treated with human recombinant growth hormone (rhGH). Gonadal axis function parameters (LH, FSH and estradiol) were evaluated at the age of physiological puberty (10-12 years, mean 10.5 years), before introduction of HRT. Additionally AMH and inhibin B levels were assessed. In follow up patients were divided into 2 groups: with (SP) and without (WP) spontaneous puberty. Spontaneous puberty was defined as Tanner stage 2 or higher breast development. Results: WP patients were observed until the mean age of 16y. SP occurred in 16 patients (mean age 10 years). Patients with SP presented with significantly lower mean FSH level (1.14-91.1 mIU/ml, mean mIU/ml 24.5 vs. 7.7-196.4 mIU/ml, mean 66.5 mIU/ml, p = 0.002), higher mean estradiol (10.5-68.8 pg/ml, mean 28.4 pg/ml vs. 6.1-26.0 pg/ml, mean 14.9 pg/ml, p = 0.005), AMH (0.0-3.11 ng/ml, mean 0.8 ng/ml vs. 0.0-0.002 ng/ml, mean 0.003 ng/ml, p = 0.001) and inhibin B (0.0-110.0 pg/ml, mean 29.1 pg/ml vs. 0.0-11.0 pg/ml, mean 1.06 pg/ml, p = 0.026) levels. In three SP patients without elevated FSH level (FSH < 35 mIU/ml) we found zero concentration levels of AMH and inhibin B. SP patients had mosaic (non 45,X) karyotype in 87.5% and WP patients only in 47%. Conclusions: AMH and inhibin B assessment may be a valuable complement to the diagnosis of ovarian function in patients with TS. Low levels of these parameters may indicate a risk of ovarian failure even in patients with spontaneous puberty and without hypergonadotropic hypogonadism.

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Section: Discussionsupporting

confidence: 92%

Evaluation of the usefulness of antymüllerian hormone and inhibin B as markers of ovarian activity in patients with Turner syndrome – preliminary results

Ruszała

Wójcik

Starzyk

2020

pedm

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“…Third, in the current study, we did not measure serum anti‐Mullerian hormone (AMH) levels, inhibin B levels or the number of ovarian follicles on ultrasonography, which are thought to be predictors of the ovarian follicle reserve 26 . Hamza et al assessed serum AMH levels in 12 TS patients and its relationship with the karyotype and reported that the lowest measurable AMH level was in patients with a karyotype of 45, X 27 . Lastly, in the current study, we defined irregular menstruation as FSH levels < 25 IU/L with spontaneous menstruation more than 38 days apart and accompanied by progestin‐induced withdrawal bleeding.…”

Section: Discussionmentioning

confidence: 87%

Subsequent menstrual disorder after spontaneous menarche in Turner syndrome

Komura

Mabuchi

Sawada

et al. 2021

Clinical Endocrinology

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Objective Turner syndrome (TS) is a congenital disease characterized by delayed puberty, ovarian dysgenesis and short stature. Although most patients are diagnosed with primary amenorrhea, approximately 15‐20% of patients with TS are reported to have spontaneous menarche. However, little is known about their menstruation status after spontaneous menarche. In the current study, we investigated the menstrual abnormalities after spontaneous menarche in TS patients. Design Retrospective study. Patients This study included TS patients with spontaneous menarche at Osaka Police Hospital or Komura Women’s Clinic between April 2015 and December 2019. Measurements Data regarding the age of menarche, menstruation status and chromosomal karyotype were collected and retrospectively analyzed. Results Of 172 TS patients, 32 with spontaneous menarche were identified. The median age of menarche was 12 years old. Premature ovarian insufficiency (POI) after menarche was observed in 12 patients (37.5%) and the median age at menopause was 20 years old. The average period from spontaneous menarche to menopause in these patients was 5.1 years. Five patients (15.6%) had irregular menstruation and 15 (46.9%) had regular menstruation. When examined according to the structural abnormality of the X chromosome, all patients with structural abnormality of the X chromosome were diagnosed with POI after spontaneous menarche, and none with mosaic without structural abnormality were diagnosed with POI. Conclusion Approximately one‐third of TS patients with spontaneous menarche were diagnosed with POI after menarche for an average of 5.1 years. Counseling is required for TS patients and their parents, including information about menstrual abnormalities or fertility preservation.

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“…At our knowledge, this is the first case of Xq duplication reporting assessment of AMH value, which is actually recognized to be the best marker of ovarian reserve in general population [35]. For these reasons, it has been proposed as a marker for early detection of ovarian failure in particular conditions such as, among others, Turner Syndrome [36][37][38]. Therefore, because of her risk of POI onset, a close monitoring of ovarian activity in this patient is needed [38].…”

Section: Discussionmentioning

confidence: 99%

“…For these reasons, it has been proposed as a marker for early detection of ovarian failure in particular conditions such as, among others, Turner Syndrome [36][37][38]. Therefore, because of her risk of POI onset, a close monitoring of ovarian activity in this patient is needed [38]. Periodically evaluation recording menses characteristics and hormonal dosages are required for early detection and treatment with hormonal replacement therapy for endogenous estrogenic deficiency.…”

Section: Discussionmentioning

confidence: 99%

A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review

Parissone

Pucci

Meneghelli

et al. 2020

Int J Pediatr Endocrinol

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Background: Xq duplication is a rare condition with a very variable phenotype, which could mimic other genetic syndromes involving the long arm of chromosome X. Sometimes short stature and diminished ovarian reserve (DOR) may be present. Treatments with rGH (Recombinant growth Hormon) or with fertility preservation strategies have not been previously described. Case presentation: We present the case of a female with a novel de novo Xq partial duplication (karyotype: 46, Xder(X)(qter→q21.31::pter→qter) confirmed by array-CGH analysis. She presented with short stature, Nonverbal Learning Disability, developmental delay during childhood, severe scoliosis, spontaneous onset of menarche and irregular menstrual cycles. AMH (Anti-Müllerian Hormone) allowed detection of a preserved but severely diminished ovarian reserve with a POI (Premature Ovarian insufficiency) onset risk. She was effectively subjected to fertility preservation strategies and rGH therapy. We also reviewed other published cases with Xq duplication, reporting the main clinics characteristics and any adopted treatment. Conclusions: rGH treatment and cryopreservation in a multidisciplinary approach are good therapeutic strategies for Xq duplication syndrome with short stature and premature ovarian failure.

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Anti‐Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy

Cited by 26 publications

References 18 publications

Evaluation of the usefulness of antymüllerian hormone and inhibin B as markers of ovarian activity in patients with Turner syndrome – preliminary results

Evaluation of the usefulness of antymüllerian hormone and inhibin B as markers of ovarian activity in patients with Turner syndrome – preliminary results

Subsequent menstrual disorder after spontaneous menarche in Turner syndrome

A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review

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