Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: Report of a third family and review

Abstract

Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, absence of breast tissue, absent ovaries, mild-moderate dorsal kyphosis, thin upper lip and unilateral sensorioneural deafness in one of them. They were the product of a Turkish consanguineous marriage. The clinical course for our patients is similar to two families reported by Al-Awadi et al. [Al-Awadi et al. (1985) Am J Med Genet 22:619-622] and Megarbane et al. [Megarbane et al. (2003) Am J Med Genet Part A 119A:214-217]. This report supports the literature by proposing an autosomal recessive syndrome which was firstly reported by Al-Awadi et al. [Al-Awadi et al. (1985) Am J Med Genet 22:619-622]. This condition may be due to a founder mutation.

Hypoplastic Vagina, Partial Vaginal Septum, and Coexisting Hypogonadotropic Hypogonadism: An Unusual Case of Primary Amenorrhea

“…The only similar cases that could be found in the literature were a group of three families with the familial occurrence of primary hypogonadism with mü llerian hypoplasia and partial alopecia. [4][5][6] Prader-Willi syndrome can also present with obesity and hypogonadotropic hypogonadism, but the patient in the current report did not meet all clinical criteria for methylation studies, including a history of hypotonia, poor feeding in infancy, cognitive impairment, or hyperphagia. 7 Although the combination of hypogonadotropic hypogonadism, vaginal hypoplasia, and partial septum in this patient might be coincidental, this situation highlights the need for thorough evaluation of patients with primary amenorrhea.…”

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

“…First, three reports were from the same geographical region of Middle East (Jordan, Lebanon, and Turkey, respectively). [123] Megerbane et al . [2] and Tatar et al .…”

“…[2] and Tatar et al . [3] hypothesized that the founder mutation in Middle East population might be responsible for the condition to be restricted to that geographical region. However, the fourth case report from South Asia (Pakistan) questioned the hypothesis of founder mutation leading to MRKH syndrome restricted to that geographical region.…”

“…Till date, there are only four case reports of MRKH syndrome with alopecia. [1234] The presence of alopecia with MRKH syndrome is a mere coincidence or an associated finding is a subject of research and may require further evidence.…”

Unusual association of Turner syndrome and Mayer-Rokitansky-Küster-Hauser syndrome

“…Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterised by an absent or hypoplastic uterus and upper two-thirds of the vagina in phenotypically and karyotypically normal females, with incidence of ∼1 case per 5000 newborn females 2. A patient with MRKHS has normal secondary sexual characteristics due to normally functioning ovaries.…”