Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature

Shah, Viral N.; Ganatra, Parth J; Parikh, Rajni; Kamdar, Panna; Baxi, Seema; Shah, N C

doi:10.4103/2230-8210.119605

Cited by 13 publications

(14 citation statements)

References 17 publications

(91 reference statements)

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“…There have been case reports on thumb abnormalities and loss of thenar eminence which were also seen in our patient [12,13]. Association between ovarian dysgenesis and MRKH has also been reported in the literature, though most MRKH women have normal ovarian function [14]. Ovaries were absent in our patient, and hence, she needs management of ovarian dysgenesis with hormone replacement therapy.…”

Section: Discussionsupporting

confidence: 65%

Chronic kidney disease in a child—an unusual crossroad: Answers

et al. 2020

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Section: Discussionsupporting

confidence: 65%

Chronic kidney disease in a child—an unusual crossroad: Answers

et al. 2020

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“…MRKH syndrome may have associated abnormalities such as renal agenesis, skeletal abnormalities, hearing loss, or cardiac defects. [ 8 9 ] In our case, the right renal agenesis was the associated finding of MRKH syndrome with alopecia which is not observed in all the previous four case reports under review.…”

Section: Discussionmentioning

confidence: 41%

Mayer-Rokitansky-Küster-Hauser syndrome with alopecia: A rare case report with review of literature

Choudhary

Choudhari

2016

Int J Trichol

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A 17-year-old girl presented with alopecia involving lateral margins of the scalp with primary amenorrhea. There was no history of parental consanguinity, and no other siblings were having similar complaints. Her secondary sexual characters were well developed with hypoplastic vagina. Histopathological findings from scalp biopsy showed features of alopecia areata. Ultrasonography of abdomen and pelvis revealed the absence of uterus and the right kidney. Follicle-stimulating hormone, luteinizing hormone, estradiol, testosterone, and thyroid function test was within normal limits. The patient had normal 46, XX Karyotype. Till date, only four case reports of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with alopecia has been reported. We are reporting the first case of MRKH syndrome with alopecia with normal gonadal function in world's literature.

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“…All patients except one presented in adult age with primary amenorrhoea and underdeveloped secondary sexual characteristics. In eight cases,2–4 7–11 there was a history of consanguinity. Five cases have a positive family history of Mullerian and gonadal agenesis.…”

Section: Discussionmentioning

confidence: 99%

Primary amenorrhoea secondary to two different syndromes: a case study

Kiran¹,

Jamil

2019

BMJ Case Rep

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Turner syndrome is a relatively common chromosomal abnormality presenting as primary amenorrhoea in gynaecological and endocrine clinics, caused by complete or partial X monosomy in some or all cells. Mayer-Rokitansky-Kuster-Hauser syndrome is another common cause of primary amenorrhoea characterised by Mullerian agenesis of varying degrees. We report a case of an 18-year-old girl, who presented with primary amenorrhoea, absence of secondary sexual characteristics and short stature. Hormonal profile confirms hypergonadotrophic hypogonadism. Karyotyping was consistent with Turner syndrome (45,XO). In addition, radiological imaging of the pelvis showed the absence of both ovaries as well as the uterus, cervix and vagina. This patient had therefore presented with two different syndromes as the cause of her primary amenorrhoea, which is extremely rare in a single patient. Moreover, oestrogen replacement therapy will trigger the development of secondary sexual characteristic and promote bone growth, but induction of menstruation and fertility is impossible.

show abstract

Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature

Cited by 13 publications

References 17 publications

Chronic kidney disease in a child—an unusual crossroad: Answers

Chronic kidney disease in a child—an unusual crossroad: Answers

Mayer-Rokitansky-Küster-Hauser syndrome with alopecia: A rare case report with review of literature

Primary amenorrhoea secondary to two different syndromes: a case study

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