Assisted Reproduction in Congenital Adrenal Hyperplasia

Chatziaggelou, Anastasios; Sakkas, Evangelos; Votino, Raffaella; Papagianni, Maria; Mastorakos, George

doi:10.3389/fendo.2019.00723

Cited by 29 publications

(25 citation statements)

References 35 publications

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“…Although only few cases have been reported to be successful pregnancies, it may be an effective way to help them have their own children, through IVF and FET after using exogenous estrogen for endometrial preparation and corticoids to suppress the overproduction of progesterone. Of course, a multidisciplinary team including reproductive endocrinologist, internal endocrinologist, obstetrician and geneticist is needed for these women to get through the pregnancy and delivery [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature

et al. 2021

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Background Congenital adrenal hyperplasia (CAH) caused by P450 oxidoreductase deficiency (PORD) in 46, XX patients is characterized by genital ambiguity, primary amenorrhea, absent or incomplete sexual maturation, infertility, skeletal malformations and so on. But few pregnancies have been reported from these female patients with PORD. Case description A 29-year-old Chinese woman with PORD due to the compound heterozygous mutation (c.1370G > A/c.1196_1204del) in the P450 oxidoreductase (POR) gene had suffered from primary amenorrhea and infertility. She had one cancelled cycle of ovulation induction due to low serum estradiol(E2), high progesterone(P) levels and thin endometrium, then in vitro fertilization (IVF) was recommended. At the first IVF cycle, 4 oocytes were retrieved and 4 viable embryos were cryopreserved due to thin endometrium associated with low E2 and prematurely elevated P after ovarian stimulation, even though oral dexamethasone were used to control adrenal P overproduction at the same time. When basal P fell to < 1.5 ng/ml after the therapy of oral dexamethasone, artificial endometrial preparation and frozen embryo transfer were performed, resulting in a twin pregnancy. She delivered a healthy boy and a healthy girl by caesarean section at 37 weeks and 2 days of gestation. After the literature search in PORD women, no spontaneous pregnancy has been reported and only two previous case reports of 3 successful pregnancies through IVF were summarized. Conclusions It is the third report that successful pregnancy was achieved in a CAH woman caused by a compound heterozygous POR mutation, with primary amenorrhea and disorders of steroidogenesis. It seemed that disorders of steroidogenesis caused by PORD didn’t impair the developmental potential of oocytes. IVF and frozen embryo transfer after adequate hormonal control and endometrial preparation should be an effective infertility treatment for PORD women.

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Section: Discussionmentioning

confidence: 99%

Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature

et al. 2021

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“…At puberty, some girls with STAR variants even manage to proceed through pubertal development and have regular menstrual cycles [ 30 , 31 ], but early cessation resulting in ovarian cysts and infertility is then seen [ 16 , 31 ]. We suggest that using current fertility techniques, such as egg freezing, early could provide a chance for these girls to preserve fertility [ 32 , 33 ]. Pregnancy has been successfully achieved in other disorders of steroidogenesis affecting fertility such as CYP17 deficiency [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

Katharopoulos

Iorgi

Fernández-Álvarez

et al. 2020

IJMS

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Congenital adrenal hyperplasia (CAH) consists of several autosomal recessive disorders that inhibit steroid biosynthesis. We describe a case report diagnosed with adrenal insufficiency due to low adrenal steroids and adrenocorticotropic hormone excess due to lack of cortisol negative feedback signaling to the pituary gland. Genetic work up revealed two missense variants, p.Thr204Arg and p.Leu260Arg in the STAR gene, inherited by both parents (non-consanguineous). The StAR protein supports CYP11A1 enzyme to cleave the side chain of cholesterol and synthesize pregnenolone which is metabolized to all steroid hormones. We used bioinformatics to predict the impact of the variants on StAR activity and then we performed functional tests to characterize the two novel variants. In a cell system we tested the ability of variants to support cholesterol conversion to pregnenolone and measured their mRNA and protein expression. For both variants, we observed loss of StAR function, reduced protein expression and categorized them as pathogenic variants according to guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. These results fit the phenotype of the girl during diagnosis. This study characterizes two novel variants and expands the list of missense variants that cause CAH.

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“…Although only few cases have been reported to be successful pregnancies, it may be an effective way to help them have their own children, through IVF and FET after using exogenous estrogen for endometrial preparation and corticoids or combined with GnRH agonist when necessary to suppress the overproduction of progesterone from adrenal and gonad. Of course, a multidisciplinary team including reproductive endocrinologist, internal endocrinologist, obstetrician and geneticist is needed for these women to get through the pregnancy and delivery [6].…”

Section: Discussionmentioning

confidence: 99%

Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature

Pan

Zheng

Chen

et al. 2020

Preprint

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Background: Congenital adrenal hyperplasia (CAH) caused by P450 oxidoreductase deficiency (PORD) in 46,XX patients is characterized by genital ambiguity, primary amenorrhea, absent or incomplete sexual maturation, infertility, skeletal malformations and so on. But few pregnancies have been reported from these female patients with PORD. Case Description: A 29-year-old Chinese woman with PORD due to the compound heterozygous mutation (c.1370G>A/c.1196_1204del) in the P450 oxidoreductase(POR) gene had suffered from primary amenorrhea and infertility. She had one cancelled cycle of ovulation induction due to low serum estradiol(E2), high progesterone(P) levels and thin endometrium，then in vitro fertilization (IVF) was recommended. At the first IVF cycle, 4 oocytes were retrieved and 4 viable embryos were cryopreserved due to thin endometrium associated with low E2 and prematurely elevated P after ovarian stimulation, even though oral dexamethasone were used to control adrenal P overproduction at the same time. When basal P fell to <1.5ng/ml, artificial endometrial preparation and frozen embryo transfer were performed, resulting in a twin pregnancy. She delivered a healthy boy and a healthy girl by caesarean section at 37 weeks and 2 days of gestation. Conclusions: We report the pregnancy achieved in a CAH woman caused by a compound heterozygous POR mutation, with primary amenorrhea and disorders of steroidogenesis. It seemed that disorders of steroidogenesis caused by PORD didn’t impair the developmental potential of oocytes. IVF and frozen embryo transfer after adequate hormonal control and endometrial preparation should be an effective infertility treatment for PORD women.

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Assisted Reproduction in Congenital Adrenal Hyperplasia

Cited by 29 publications

References 35 publications

Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature

Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature

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